Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
obsolete testicular spermatocytic seminoma with sarcoma	DOID_7890
aromatase excess syndrome	DOID_0090122	[A reproductive system disease characterized by increased extraglandular aromatization of steroids resulting in heterosexual precocity in males and isosexual precocity in females, and has_material_basis_in autosomal dominant inheritance of fusion of the aromatase gene (CYP19A1) with various partners, brought about by translocations and resulting in gain of function of the CYP19A1 gene.]
neurilemmoma of the pleura	DOID_6564
aortic valve prolapse	DOID_5232
Eubrachyura	NCBITaxon_116704
camptodactyly-arthropathy-coxa vara-pericarditis syndrome	DOID_0090127	[A syndrome that is characterized by congenital or early-onset camptodactyly, noninflammatory arthropathy with synovial hyperplasia and in some patients progressive coxa vara deformity, and/or noninflammatory pericardial or pleural effusion that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the proteoglycan 4 gene (PRG4) on chromosome 1q31.]
obsolete peritoneal and retroperitoneal tumors	DOID_5231
Carvajal syndrome	DOID_0090128	[A Naxos disease that is characterized by dilated cardiomyopathy, woolly hair, and keratoderma that has_material_basis_in homozygous mutation in the desmoplakin gene on chromosome 6p24.]
ethmoid sinus inverted papilloma	DOID_6562
COL4A1-related familial vascular leukoencephalopathy	DOID_0090125	[A brain disease that is characterized by fragile small blood vessels in the brain, leukoencephalopathy, increased risk of stroke, seizure and migraine and in some cases Axenfeld-Riegar anomaly that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the collagen type IV alpha 1 chain gene (COL4A1) on chromosome 13q34.]
mite infestation	DOID_7894	[A parasitic ectoparasitic infectious disease that involves infestation of mites belonging to the family Sarcoptidae, Trombiculidae and Demodicidae.]
obsolete metastatic testicular cancer	DOID_6563
glomangiosarcoma	DOID_5233
branched-chain keto acid dehydrogenase kinase deficiency	DOID_0090126	[An amino acid metabolic disorder that is characterized by autism, epilepsy, intellectual disability, and reduced levels of branched-chain amino acids that has_material_basis_in homozygous mutation in the branched chain keto acid dehydrogenase kinase gene (BCKDK) on chromosome 16p11.]
subungual glomus tumor	DOID_5236
micropapillomatosis labialis	DOID_6569
posterior uveal melanoma	DOID_6566
uveal melanoma	DOID_6039	[A uveal cancer that has_material_basis_in uvea pigment cells.]
carnitine palmitoyltransferase I deficiency	DOID_0090129	[A lipid metabolism disorder that is characterized by impaired mitochondrial oxidation of long chain fatty acids in the liver and kidneys resulting in episodes of illness- or fasting-induced hypoketotic hypoglycemia, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the carnitine palmitoyltransferase 1A gene (CPT1A) on chromosome 11q13.]
uterine corpus myxoid leiomyosarcoma	DOID_6567	[A uterine fibroid that is characterized by islands of smooth muscle in myxoid connective tissue that contain large vessels.]