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Summary Literature (0)
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: Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome, HHH syndrome

Xenbase Genes : slc25a15.2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009393 - ornithine translocase deficiency

MIM:
MIM:238970 - HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME; HHHS

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view
Parent(s): amino acid metabolic disorder (is_a), disease by infectious agent (is_a)