Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
hypertrophic cardiomyopathy 11	DOID_0110317	[A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the ACTC1 gene on chromosome 15q14.]
obsolete metastatic squamous neck cancer with occult primary	DOID_7157
polyhydramnios	DOID_8488	[A placenta disease that is characterized by an excess of amniotic fluid in the amniotic sac.]
ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome	DOID_0111649	[An ectodermal dysplasia characterized by ectodermal dysplasia, ectrodactyly, and macular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in CDH3 on chromosome 16q22.1.]
hypertrophic cardiomyopathy 12	DOID_0110318	[A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the CSRP3 gene on chromosome 11p15.]
uterine corpus myxoid leiomyoma	DOID_13956	[An uterine fibroid that is characterized by islands of smooth muscle in myxoid connective tissue that contain large vessels, but do no infiltrative and the absence of atypia or mitotic activity.]
uterus interstitial leiomyoma	DOID_13955	[An uterine fibroid that is located within the myometrium.]
obsolete mitotically active variant uterine corpus leiomyoma	DOID_13954
uterine corpus dissecting leiomyoma	DOID_13953	[A uterine fibroid that is characterized by the presence of intramural tearing.]
toxocariasis	DOID_9790	[A parasitic helminthiasis infectious disease that involves zoonotic infection of humans by the larvae of Toxocara canis or Toxocara cati. The larvae invade multiple tissues like liver, heart, lungs, brain, muscle and eyes causing various symptoms including fever, anorexia, weight loss, cough, wheezing, rashes, hepatosplenomegaly, hypereosinophilia and ophthalmologic lesions.]
Toxocara	NCBITaxon_6264
uterine corpus epithelioid leiomyoma	DOID_13951	[An uterine fibroid that is characterized by the presence of round epithelioid, rhabdoid and large vacuolated cells intermingled with spindled cells and clear or eosinophilic cytoplasm as well as the absence of prominent nuclear atypia, tumor cell necrosis and mitotic figures.]
obsolete malnutrition	DOID_8452
trichinosis	DOID_9784	[A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by Trichinella spiralis, Trichinella nativa or Trichinella britovi. Intestinal invasion causes diarrhea, abdominal pain and vomiting. Larval migration into muscle tissues can cause periorbital and facial edema, conjunctivitis, fever, myalgias, splinter hemorrhages, rashes, and blood eosinophilia. Myocarditis, central nervous system involvement, and pneumonitis can also occur.]
Trichinella	NCBITaxon_6333
obsolete folic acid deficiency	DOID_8453
susceptibility to nasopharyngeal carcinoma 3	OMIM_617075
obsolete vitamin deficiency	DOID_8451
choline deficiency disease	DOID_8456	[A nutritional deficiency disease that is characterized by deficiency of choline, which has been associated with development of fatty liver, and possibly has_material_basis_in inadequate intake and exacerbated by a genetic predisposition.]
myositis fibrosa	DOID_9788