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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:Mitochondrial DNA Depletion Syndrome 17
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Accession:DOID:9005661 term browser browse the term
Synonyms:exact_synonym: MTDPS17
 primary_id: OMIM:618567
For additional species annotation, visit the Alliance of Genome Resources.


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Mitochondrial DNA Depletion Syndrome 17 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrm2 mitochondrial rRNA methyltransferase 2 ISO ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME 17 OMIM
ClinVar
PMID:28973171 NCBI chr12:16,398,749...16,403,656
Ensembl chr12:16,398,749...16,403,656
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    Nutritional and Metabolic Diseases 4713
      disease of metabolism 4713
        mitochondrial metabolism disease 333
          mitochondrial DNA depletion syndrome 27
            Mitochondrial DNA Depletion Syndrome 17 1
Path 2
Term Annotations click to browse term
  disease 16096
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          inherited metabolic disorder 2222
            mitochondrial metabolism disease 333
              mitochondrial DNA depletion syndrome 27
                Mitochondrial DNA Depletion Syndrome 17 1
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.