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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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ornithine translocase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a15 solute carrier family 25 member 15 ISO ClinVar Annotator: match by term: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | ClinVar Annotator: match by term: Ornithine translocase deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3407856 PMID:9536098 PMID:10369256 PMID:10805333 PMID:11355015 More... NCBI chr16:69,631,581...69,654,869
Ensembl chr16:69,634,414...69,653,010 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10888
      ornithine translocase deficiency 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        central nervous system disease 12430
          brain disease 11668
            Metabolic Brain Diseases 1490
              Metabolic Brain Diseases, Inborn 1358
                urea cycle disorder 80
                  ornithine translocase deficiency 1
paths to the root