Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
alkaptonuria	DOID_9270	[An amino acid metabolic disorder that involves phenylalanine and tyrosine metabolism with the accumulation of homogentisic acid, a toxic tyrosine byproduct.]
p-menthane monoterpenoid	CHEBI_25186
hyperlysinemia	DOID_9274	[An amino acid metabolic disorder that involves an abnormal increase of lysine in the blood.]
citrullinemia	DOID_9273	[An urea cycle disorder that involves the accumulation of ammonia in the blood.]
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.]
ornithine carbamoyltransferase deficiency	DOID_9271	[An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase.]
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.]
obsolete sulfuraminoacidemia	DOID_9264
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.]
supraintestinal artery	UBERON_2005036
ion	CHEBI_24870	[A molecular entity having a net electric charge.]
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.]
carbamoyl phosphate synthetase I deficiency disease	DOID_9280	[A urea cycle disorder that involves accumulation of ammonia in the blood.]
Abnormality of the intrinsic pathway	HP_0010989	[An abnormality of the intrinsic pathway (also known as the contact activation pathway) of the coagulation cascade.]
Abnormality of the coagulation cascade	HP_0003256	[An abnormality of the coagulation cascade, which is comprised of the contact activation pathway (also known as the intrinsic pathway) and the tissue factor pathway (also known as the extrinsic pathway) as well as cofactors and regulators.]
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.]