ornithine translocase deficiency Disease Ontology Browser

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Disease Ontology Browser

ornithine translocase deficiency (DOID:0050720)
Alliance: disease page
Synonyms: HHH syndrome; Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome
Alt IDs: OMIM:238970
Definition: An amino acid metabolic disorder that has_material_basis_in deficiency of ornithine translocase resulting in the accumulation of ammonia in the blood.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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