DISEASES

Disease-gene associations mined from literature

Human genes for ornithine translocase deficiency

Ornithine translocase deficiency [DOID:0050720]

An amino acid metabolic disorder that has_material_basis in deficiency of ornithine translocase resulting in the accumulation of ammonia in the blood.

Synonyms:  ornithine translocase deficiency,  DOID:0050720,  HHH syndrome,  Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome,  HHH disease ...

Linkouts:  OMIM