All terms in DOID

Label Id Description
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.]
supraintestinal artery UBERON_2005036
ion CHEBI_24870
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.]
Clitoral hypertrophy HP_0008665
Increased size of the clitoris HP_0040253
Elevated circulating desmosterol concentration HP_0034937
Abnormal circulating cholesterol concentration HP_0003107
Abnormality of the intrinsic pathway HP_0010989
Abnormality of the coagulation cascade HP_0003256
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.]
primary cerebellar degeneration DOID_9277
tyrosinemia DOID_9275 [An amino acid metabolic disorder that involves impaired break down of the amino acid tyrosine.]
tetrahydrofuranone CHEBI_47016
oxolanes CHEBI_26912
hyperhomocysteinemia DOID_9279 [An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood.]