Metadata | |
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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 | |
Synonyms |
HHH syndrome [EXACT] Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome [EXACT] |
Parent Relationships |