Terminology Service < Semantic Lookup Platform

All terms in BAO

Label	Id	Description
ornithine carbamoyltransferase deficiency	DOID_9271	[An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase.]
urea cycle disorder	DOID_9267	[An amino acid metabolic disorder that involves a deficiency of one of the enzymes in the urea cycle which is responsible for removing ammonia from the blood stream.]
hypoxia-inducible factor pathway activator	CHEBI_134083
cystinuria	DOID_9266	[An amino acid metabolic disorder that involves the formation of cystine stones in the kidneys, ureter, and bladder.]
histidine metabolism disease	DOID_9265	[An amino acid metabolic disorder that involves deficiency in histidine.]
maple syrup urine disease	DOID_9269	[An organic acidemia that is caused by a deficiency of decarboxylase leading to high concentrations of valine, leucine, isoleucine, and alloisoleucine in the blood, urine, and cerebrospinal fluid and characterized by an odor of maple syrup to the urine, vomiting, hypertonicity, severe mental retardation, seizures, and eventually death unless the condition is treated with dietary measures.]
organic acidemia	DOID_0060159	[An amino acid metabolic disorder that disrupts normal amino acid metabolism causing a building up of branched-chain amino acids.]
glycine encephalopathy	DOID_9268	[An amino acid metabolic disorder that involves abnormally high levels of the amino acid glycine in bodily fluids and tissues.]
matrix metalloproteinase inhibitor	CHEBI_50664
EC 3.4.* (hydrolases acting on peptide bond) inhibitor	CHEBI_60258
EC 6.3.2.19 (ubiquitin--protein ligase) inhibitor	CHEBI_75968
phenylketonuria	DOID_9281	[An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional.]
metabotropic glutamate receptor antagonist	CHEBI_63963
adenosine receptor agonist	CHEBI_73311
carbamoyl phosphate synthetase I deficiency disease	DOID_9280	[An amino acid metabolic disorder that involves accumulation of ammonia in the blood.]
Hsp90 inhibitor	CHEBI_63962
EC 3.6.4.10 (non-chaperonin molecular chaperone ATPase) inhibitor	CHEBI_76939
adenosine A2A receptor agonist	CHEBI_73310
ocular hypertension	DOID_9282	[An eye disease that is characterized by elevated intraocular pressure in the absence of optic nerve damage or visual field loss.]
hyperargininemia	DOID_9278	[An urea cycle disorder that involves arginase deficiency resulting in elevated levels of plasma arginine.]