Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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
OMIM
ClinVar
PMID:1734306 PMID:11687801 PMID:12391347 PMID:12493767 PMID:12655576 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 17251
    disease of anatomical entity 16595
      musculoskeletal system disease 6446
        muscular disease 1280
          Mitochondrial DNA Depletion Syndrome, Myopathic Form 1
            mitochondrial DNA depletion syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 17251
    Developmental Disease 10960
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9494
        genetic disease 8999
          inherited metabolic disorder 2633
            mitochondrial metabolism disease 395
              mitochondrial DNA depletion syndrome 30
                Mitochondrial DNA Depletion Syndrome, Myopathic Form 1
                  mitochondrial DNA depletion syndrome 2 1
paths to the root