Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
autosomal dominant mental retardation 52	DOID_0080231
Abnormality of the sternum	HP_0000766	[An anomaly of the sternum, also known as the breastbone.]
petechiae	SYMP_0000760	[A skin and integumentary tissue symptom characterized as a minute reddish or purplish spot containing blood that appears in skin or mucous membrane as a result of localized hemorrhage.]
polyp of middle ear	DOID_7439
obsolete mesenchymal hamartoma of the liver	DOID_6108
obsolete hepatic and intrahepatic bile duct non-epithelial neoplasm	DOID_6109
Abnormality of the breast	HP_0000769	[An abnormality of the breast.]
tuberous sclerosis 1	DOID_0080324	[A tuberous sclerosis that is characterized by hamartomas in multiple organ systems and has_material_basis_in heterozygous mutation in the TSC1 gene on chromosome 9q34.]
tuberous sclerosis	DOID_13515	[A syndrome that is characterized by the growth of numerous noncancerous tumors in many parts of the body.]
tuberous sclerosis 2	DOID_0080325	[A tuberous sclerosis that is characterized by hamartomas in multiple organ systems and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the TSC2 gene, which encodes tuberin, on chromosome 16p13.]
pareses	SYMP_0000659	[Pareses is a paralysis charachterized by slight or partial paralysis.]
familial hypertrophic cardiomyopathy	DOID_0080326	[A hypertrophic cardiomyopathy that is characterized by thickening of the heart muscle and has_material_basis_in autosomal dominant inheritance of one or more gene mutations.]
hypertrophic cardiomyopathy	DOID_11984	[An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.]
multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly	DOID_0080327	[A syndrome that is characterized by severe hydranencephaly with almost complete absence of the cerebral hemispheres, which are replaced by fluid, relative preservation of the posterior fossa structures, and renal dysplasia or agenesis and has_material_basis_in autosomal recessive homozygous mutation in the CEP55 gene on chromosome 10q23.]
obsolete Vasa previa complicating labor and delivery, delivered	DOID_10280
ischemic necrosis of jejunum	SYMP_0000657
peripheral nervous system benign neoplasm	DOID_0080320
extraocular muscles paralysis	SYMP_0000658
polycystic kidney disease	DOID_0080322
cystic kidney disease	DOID_2975