ZFIN Human Disease: urea cycle disorder

OBO ID: DOID:9267

Term Name:	urea cycle disorder		Search Ontology:
Synonyms:	disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia disorder of urea cycle metabolism urea cycle defect
Definition:	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. http://en.wikipedia.org/wiki/Urea_cycle_disorder
References:	GARD:7837 ICD10CM:E72.2 ICD9CM:270.6 MESH:D056806 NCI:C84785 SNOMEDCT_US_2022_03_01:36444000 UMLS_CUI:C0154246
Ontology:	Human Disease (DOID:9267)

Relationships

is a type of:	amino acid metabolic disorder amino acid metabolic disorder Show first 5 Terms
has subtype:	carbamoyl phosphate synthetase I deficiency disease citrullinemia hyperargininemia N-acetylglutamate synthase deficiency ornithine carbamoyltransferase deficiency carbamoyl phosphate synthetase I deficiency disease citrullinemia hyperargininemia N-acetylglutamate synthase deficiency ornithine carbamoyltransferase deficiency Show first 5 Terms

OTHER urea cycle disorder PAGES

Alliance (1)

GENES INVOLVED No data available

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None