DISEASES

Disease-gene associations mined from literature

Human genes for ornithine carbamoyltransferase deficiency

Ornithine carbamoyltransferase deficiency [DOID:9271]

An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase.

Synonyms:  ornithine carbamoyltransferase deficiency,  DOID:9271,  deficiency of citrulline phosphorylase,  ornithine transcarbamylase deficiency

Linkouts:  OMIM