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ONTOLOGY REPORT - ANNOTATIONS


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
For additional species annotation, visit the Alliance of Genome Resources.


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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
RGD:8554872

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  disease 14383
    syndrome 4654
      ornithine translocase deficiency 2
Path 2
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  disease 14383
    disease of anatomical entity 13567
      nervous system disease 8645
        central nervous system disease 5900
          brain disease 5383
            Metabolic Brain Diseases 440
              Brain Diseases, Metabolic, Inborn 383
                urea cycle disorder 17
                  ornithine translocase deficiency 2
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