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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 12b
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Accession:DOID:0080335 term browser browse the term
Definition:An autosomal recessive mitochondrial disorder characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance. Skeletal muscle biopsy shows ragged red fibers, mtDNA depletion, and accumulation of abnormal mitochondria. (OMIM)
Synonyms:exact_synonym: MTDPS12B;   autosomal recessive mitochondrial DNA depletion syndrome-12B;   mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR;   mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive
 primary_id: OMIM:615418
 alt_id: RDO:9001715
 xref: ORDO:1369
For additional species annotation, visit the Alliance of Genome Resources.

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mitochondrial DNA depletion syndrome 12b term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a4 solute carrier family 25 member 4 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive OMIM
PMID:7609449, PMID:8479824, PMID:16155110, PMID:22187496, PMID:25732997, PMID:25741868, PMID:30311386 NCBI chr16:49,266,903...49,270,698
Ensembl chr16:49,266,903...49,270,698
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      cardiovascular system disease 4445
        heart disease 2665
          cardiomyopathy 1086
            mitochondrial DNA depletion syndrome 12b 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        peripheral nervous system disease 2476
          neuropathy 2297
            neuromuscular disease 1778
              muscular disease 1201
                muscle tissue disease 813
                  myopathy 670
                    mitochondrial myopathy 89
                      mitochondrial DNA depletion syndrome 12b 1
paths to the root


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