OBO ID: DOID:9271
Term Name: ornithine carbamoyltransferase deficiency Search Ontology:
Synonyms:
  • deficiency of citrulline phosphorylase
  • ornithine transcarbamylase deficiency
Definition: An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase. http://en.wikipedia.org/wiki/Ornithine_carbamoyltransferase_deficiency
References:
Ontology: Human Disease   ( DOID:9271 )
OTHER ornithine carbamoyltransferase deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
OTC Ornithine transcarbamylase deficiency 311250
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None