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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: NCI:C129029
For additional species annotation, visit the Alliance of Genome Resources.



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ornithine translocase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrps31 mitochondrial ribosomal protein S31 ISO ClinVar Annotator: match by term: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome ClinVar PMID:10369256 PMID:28492532 NCBI chr16:69,601,349...69,621,609
Ensembl chr16:69,601,349...69,630,654
JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO ClinVar Annotator: match by OMIM:238970
ClinVar Annotator: match by term: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
OMIM
ClinVar
PMID:3407856 PMID:10369256 PMID:10805333 PMID:11355015 PMID:11552031 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 17289
    disease by infectious agent 1920
      ornithine translocase deficiency 2
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          brain disease 9782
            Metabolic Brain Diseases 611
              Metabolic Brain Diseases, Inborn 540
                urea cycle disorder 46
                  ornithine translocase deficiency 2
paths to the root