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DOID:0050720 - ornithine translocase deficiency
Disease Ontology Definition:An amino acid metabolic disorder that has_material_basis_in deficiency of ornithine translocase resulting in the accumulation of ammonia in the blood.
Synonyms: HHH syndrome, Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome,
Echinobase Genes :
MIM:238970 - hyperornithinemia-hyperammonemia-homocitrullinuria syndrome |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
amino acid metabolic disorder (is_a)