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 ) |