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Metadata
ID DOID:0050720
Name ornithine translocase deficiency
Definition An amino acid metabolic disorder that has_material_basis in deficiency of ornithine translocase resulting in the accumulation of ammonia in the blood.
http://en.wikipedia.org/wiki/Ornithine_translocase_deficiency, http://rarediseases.info.nih.gov/GARD/Condition/2830/Ornithine_translocase_deficiency_syndrome.aspx
Xrefs

OMIM:238970

Synonyms

HHH syndrome [EXACT]

Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome [EXACT]

Parent Relationships

is_a amino acid metabolic disorder

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