Terminology Service < Semantic Lookup Platform

All terms in BAO

Label	Id	Description
Nezelof syndrome	DOID_2012
T cell deficiency	DOID_11200
androgen insensitivity syndrome	DOID_4674	[A sex differentiation disease that is characterized by the partial or complete inability of the cell to respond to androgens in individuals with a karyotype of 46,XY resulting in female physical traits but male genetic makeup.]
sex differentiation disease	DOID_1923
xanthomatosis	DOID_3345	[A lipid storage disease that is characterized by the desposition of yellowish cholesterol-rich material in tendons or other body parts.]
lipid storage disease	DOID_9455	[A lysosomal storage disease that involves the accumulation of harmful amounts of lipids (fats) in some of the body's cells and tissues.]
keratitis	DOID_4677	[A corneal disease that is characterized by inflammation of the cornea.]
corneal disease	DOID_10124
sarcoma	DOID_1115	[A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from embryonic mesoderm.]
hyperinsulinism	DOID_2018
glucose metabolism disease	DOID_4194
endocrine pancreas disease	DOID_1428
on plate control	BAO_0002840
off plate control	BAO_0002841
EC 4.1.1.50 (adenosylmethionine decarboxylase) inhibitor	CHEBI_78024
EC 4.1.1.* (carboxy-lyase) inhibitor	CHEBI_76906
hereditary coproporphyria	DOID_13269
acute porphyria	DOID_3133	[A porphyria that has_symptom abdominal pain, has_symptom neuropathy, has_symptom autonomic instability and has_symptom psychosis.]
porphyria	DOID_13268	[An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins.]
inherited metabolic disorder	DOID_655	[A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality.]