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Term:ornithine translocase deficiency
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Accession:DOID:0050720 term browser browse the term
Definition:An amino acid metabolic disorder that has_material_basis in deficiency of ornithine translocase resulting in the accumulation of ammonia in the blood. (DO)
Synonyms:exact_synonym: HHH;   HHH syndrome;   HHHS;   Hyperornithinemia-hyperammonemia-homocitrullinuria;   Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome;   hyperornithinemia-hyperammonemia-homocitrullinemia syndrome;   hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome;   triple H syndrome
 primary_id: MESH:C538380
 alt_id: OMIM:238970;   RDO:0004355
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ornithine translocase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mrps31 mitochondrial ribosomal protein S31 JBrowse link 16 74,467,874 74,504,834 RGD:8554872
G Slc25a15 solute carrier family 25 member 15 JBrowse link 16 74,505,318 74,554,523 RGD:7240710

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  disease 14759
    syndrome 4210
      ornithine translocase deficiency 2
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  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            Metabolic Brain Diseases 439
              Metabolic Brain Diseases, Inborn 383
                urea cycle disorder 17
                  ornithine translocase deficiency 2
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