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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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-homocitrullinemia syndrome;   hyperornithinemia-hyperammonemia-homocitrullinuria;   hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome;   hyperornithinemia-hyperammonemia-homocitrullinuria syndrome;   triple H syndrome
 primary_id: MESH:C538380
 alt_id: OMIM:238970
 xref: MONDO:0009393;   NCI:C129029


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Path 1
Term Annotations click to browse term
  disease 21089
    syndrome 10784
      ornithine translocase deficiency 1
Path 2
Term Annotations click to browse term
  disease 21089
    disease of anatomical entity 18156
      nervous system disease 13996
        central nervous system disease 12287
          brain disease 11531
            Metabolic Brain Diseases 1464
              Metabolic Brain Diseases, Inborn 1331
                urea cycle disorder 79
                  ornithine translocase deficiency 1
paths to the root