Term Name: ornithine carbamoyltransferase deficiency
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.
Ontology: Human Disease [DOID:9271]   ( DOID:9271 )

Relationships
is a type of: urea cycle disorder