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)
OTHER urea cycle disorder PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None