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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 chr16:74,467,874...74,504,834
Ensembl chr16:74,467,851...74,496,731
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 PMID:12807890 PMID:16376511 PMID:16601889 PMID:16940241 PMID:17825324 PMID:18666241 PMID:19242930 PMID:22649802 PMID:23430880 PMID:24473688 PMID:25741868 PMID:25818551 PMID:25874378 PMID:26589310 PMID:28492532 PMID:29554876 PMID:30243302 PMID:32214227 NCBI chr16:74,505,318...74,554,523
Ensembl chr16:74,531,564...74,554,529
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    disease by infectious agent 1805
      ornithine translocase deficiency 2
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        central nervous system disease 9119
          brain disease 8448
            Metabolic Brain Diseases 576
              Metabolic Brain Diseases, Inborn 506
                urea cycle disorder 43
                  ornithine translocase deficiency 2
paths to the root