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ONTOLOGY REPORT - ANNOTATIONS


Term:mitochondrial DNA depletion syndrome 12a
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Accession:DOID:0080130 term browser browse the term
Definition:A disease characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth. Muscle samples show mtDNA depletion and severe combined mitochondrial respiratory chain deficiencies. (OMIM)
Synonyms:exact_synonym: MTDPS12A;   autosomal dominant mitochondrial DNA depletion syndrome-12A;   mitochondrial DNA depletion syndrome 12 (cardiomyopathic type);   mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD;   mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant
 broad_synonym: MTDPS12;   mitochondrial DNA depletion syndrome 12
 primary_id: OMIM:617184
 alt_id: RDO:9000942;   RDO:9001714
 xref: NCI:C129977
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mitochondrial DNA depletion syndrome 12a 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:8554872
RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 15639
    Nutritional and Metabolic Diseases 4392
      disease of metabolism 4392
        mitochondrial metabolism disease 308
          mitochondrial DNA depletion syndrome 25
            mitochondrial DNA depletion syndrome 12a 1
Path 2
Term Annotations click to browse term
  disease 15639
    disease of anatomical entity 14969
      nervous system disease 10242
        peripheral nervous system disease 2134
          neuropathy 1956
            neuromuscular disease 1530
              muscular disease 968
                muscle tissue disease 689
                  myopathy 556
                    mitochondrial myopathy 77
                      mitochondrial DNA depletion syndrome 12a 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.