FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term ornithine translocase deficiency ID (Ontology) DOID:0050720 (Human Disease)
Definition An amino acid metabolic disorder that has_material_basis_in deficiency of ornithine translocase resulting in the accumulation of ammonia in the blood.
Also Known As "HHH syndrome" ; "Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome"
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       1
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 Alleles Genes
 ornithine translocase deficiency       1      1
 for disease ribbon | ornithine translocase deficiency       --       1
 model of | ornithine translocase deficiency       1      1
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  inherited metabolic disorder
   |__amino acid metabolic disorder
       |__ornithine translocase deficiency  2 rec.
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Is a amino acid metabolic disorder
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Synonyms
  • "HHH syndrome" EXACT
    "Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome" EXACT
Secondary IDs
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GARD:2830
MIM:238970