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
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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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Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      cardiovascular system disease 4055
        heart disease 2226
          cardiomyopathy 898
            mitochondrial DNA depletion syndrome 12a 1
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        peripheral nervous system disease 2009
          neuropathy 1830
            neuromuscular disease 1411
              muscular disease 908
                muscle tissue disease 636
                  myopathy 523
                    mitochondrial myopathy 79
                      mitochondrial DNA depletion syndrome 12a 1
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