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ONTOLOGY REPORT - ANNOTATIONS


Term:mitochondrial DNA depletion syndrome 5
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Accession:DOID:0080124 term browser browse the term
Definition:A mitochondrial DNA depletion syndrome that is characterized by infantile onset of hypotonia, progressive neurologic deterioration, a hyperkinetic-dystonic movement disorder, external ophthalmoplegia, deafness, and variable renal tubular dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the beta subunit of the succinate-CoA ligase gene on chromosome 13q14. (DO)
Synonyms:exact_synonym: MTDPS5;   mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria);   mitochondrial DNA depletion syndrome, encephalomyopathic form, with methylmalonic aciduria, autosomal recessive;   mitochondrial DNA depletion syndrome, encephalomyopathic form, with or without methylmalonic aciduria, autosomal recessive, SUCLA2-related
 primary_id: MESH:C567624
 alt_id: OMIM:612073;   RDO:0009590;   RDO:0015650
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mitochondrial DNA depletion syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sucla2 succinate-CoA ligase ADP-forming beta subunit JBrowse link 15 55,461,695 55,516,954 RGD:7240710
RGD:8554872

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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 5 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 encephalomyopathy 46
                        mitochondrial DNA depletion syndrome 5 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.