ONTOLOGY REPORT - ANNOTATIONS


Term:mitochondrial DNA depletion syndrome 5
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Accession:DOID:0080124 term browser browse the term
Synonyms:exact_synonym: MTDPS5;   mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria);   mitochondrial DNA depletion syndrome, encephalomyopathic form, with or without methylmalonic aciduria, autosomal recessive, SUCLA2-related
 primary_id: OMIM:612073
 alt_id: RDO:0009590
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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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    Nutritional and Metabolic Diseases 4249
      disease of metabolism 4249
        Metabolic Brain Diseases 441
          mitochondrial encephalomyopathy 43
            mitochondrial DNA depletion syndrome 5 1
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        peripheral nervous system disease 2009
          neuropathy 1830
            neuromuscular disease 1411
              muscular disease 908
                muscle tissue disease 636
                  myopathy 523
                    mitochondrial myopathy 79
                      mitochondrial encephalomyopathy 43
                        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.