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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: MITOCHONDRIAL DNA DEPLETION MYOPATHY, TK2-RELATED;   MTDPS2;   Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type);   TK2-related mitochondrial DNA depletion syndrome, myopathic form
 primary_id: OMIM:609560
 alt_id: RDO:0009330
 xref: 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 OMIM:609560
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 2
OMIM
ClinVar
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 16108
    disease of anatomical entity 15356
      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 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          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

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