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RGD uses the Human Disease Ontology (DO, 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, Myopathic Form
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Accession:DOID:9002774 term browser browse the term
Synonyms:exact_synonym: Mitochondrial DNA Depletion Myopathy, Autosomal Recessive
 primary_id: MESH:C563698
 alt_id: RDO:0012889
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
mitochondrial DNA depletion syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tk2 thymidine kinase 2 ISO ClinVar Annotator: match by OMIM:609560
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 2
PMID:1734306, PMID:11687801, PMID:12391347, PMID:12493767, PMID:12655576, PMID:12873860, PMID:15639197, PMID:15907288, PMID:16504786, PMID:16908738, PMID:19265691, PMID:21937588, PMID:22345218, PMID:23303857, PMID:23932787, PMID:23963299, PMID:24033266, PMID:24484525, PMID:25326635, PMID:25446393, PMID:25741868, PMID:26467025, PMID:26925861, PMID:28492532, PMID:28812460 NCBI chr19:917,203...939,236
Ensembl chr19:917,203...939,221
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      musculoskeletal system disease 5715
        muscular disease 1196
          Mitochondrial DNA Depletion Syndrome, Myopathic Form 1
            mitochondrial DNA depletion syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 16103
    Developmental Diseases 9506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8364
        genetic disease 7847
          inherited metabolic disorder 2223
            mitochondrial metabolism disease 333
              mitochondrial DNA depletion syndrome 27
                Mitochondrial DNA Depletion Syndrome, Myopathic Form 1
                  mitochondrial DNA depletion syndrome 2 1
paths to the root


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