|
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
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, Ontobee