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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, 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


show annotations for term's descendants           Sort by:
Mitochondrial DNA Depletion Syndrome, Myopathic Form 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 term: Mitochondrial DNA depletion syndrome, myopathic form ClinVar PMID:1734306 PMID:9536098 PMID:11687801 PMID:12391347 PMID:12493767 More... NCBI chr19:708,859...731,786
Ensembl chr19:708,891...730,924 		JBrowse link
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
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:609560
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 2 | ClinVar Annotator: match by term: TK2-Related Mitochondrial DNA Depletion Syndrome, Myopathic Form		 OMIM
CTD
MouseDO
ClinVar		 PMID:16504786 PMID:23963299 PMID:24033266 PMID:25446393 PMID:25741868 More... NCBI chr19:708,859...731,786
Ensembl chr19:708,891...730,924 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      musculoskeletal system disease 8304
        muscular disease 2147
          Mitochondrial DNA Depletion Syndrome, Myopathic Form 1
            mitochondrial DNA depletion syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 18976
    Developmental Disease 14397
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13406
        genetic disease 13024
          inherited metabolic disorder 6256
            mitochondrial metabolism disease 812
              mitochondrial DNA depletion syndrome 41
                Mitochondrial DNA Depletion Syndrome, Myopathic Form 1
                  mitochondrial DNA depletion syndrome 2 1
paths to the root