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ONTOLOGY REPORT - ANNOTATIONS


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
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mitochondrial DNA depletion syndrome 12b term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc25a4 solute carrier family 25 member 4 JBrowse link 16 49,266,903 49,270,698 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15619
    Nutritional and Metabolic Diseases 4374
      disease of metabolism 4374
        mitochondrial metabolism disease 307
          mitochondrial DNA depletion syndrome 25
            mitochondrial DNA depletion syndrome 12b 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        peripheral nervous system disease 2125
          neuropathy 1948
            neuromuscular disease 1520
              muscular disease 957
                muscle tissue disease 684
                  myopathy 549
                    mitochondrial myopathy 75
                      mitochondrial DNA depletion syndrome 12b 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.