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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 16058
    disease by infectious agent 1759
      ornithine translocase deficiency 2
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            Metabolic Brain Diseases 573
              Metabolic Brain Diseases, Inborn 502
                urea cycle disorder 44
                  ornithine translocase deficiency 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.