OBO ID: DOID:9280
Term Name: carbamoyl phosphate synthetase I deficiency disease Search Ontology:
Synonyms:
  • CPS I deficiency
Definition: A urea cycle disorder that involves accumulation of ammonia in the blood. http://ghr.nlm.nih.gov/condition/carbamoyl-phosphate-synthetase-i-deficiency
References:
Ontology: Human Disease   (DOID:9280)
OTHER carbamoyl phosphate synthetase I deficiency disease PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CPS1 Carbamoylphosphate synthetase I deficiency 237300
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None