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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 2
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Accession:DOID:0080120 term browser browse the term
Definition:A mitochondrial DNA depletion syndrome that is characterized by childhood onset of muscle weakness associated with depletion of mtDNA in skeletal muscle, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the mitochondrial thymidine kinase gene on chromosome 16q21. (DO)
Synonyms:exact_synonym: MTDPS2;   TK2-related mitochondrial DNA depletion syndrome, myopathic form;   mitochondrial DNA depletion myopathy, TK2-related;   mitochondrial DNA depletion syndrome 2 (myopathic type)
 primary_id: OMIM:609560
 xref: NCI:C185236;   ORDO:254875
For additional species annotation, visit the Alliance of Genome Resources.



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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 term: TK2-Related Mitochondrial DNA Depletion Syndrome, Myopathic Form OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:29783828 PMID:33013660 NCBI chr19:708,859...731,786
Ensembl chr19:708,891...730,924
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      musculoskeletal system disease 7137
        muscular disease 1417
          Mitochondrial DNA Depletion Syndrome, Myopathic Form 1
            mitochondrial DNA depletion syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11402
        genetic disease 10994
          inherited metabolic disorder 4645
            mitochondrial metabolism disease 419
              mitochondrial DNA depletion syndrome 37
                Mitochondrial DNA Depletion Syndrome, Myopathic Form 1
                  mitochondrial DNA depletion syndrome 2 1
paths to the root