ONTOLOGY REPORT - ANNOTATIONS


Term:mitochondrial DNA depletion syndrome 4A
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Accession:DOID:0080122 term browser browse the term
Synonyms:exact_synonym: MTDPS4A;   mitochondrial DNA depletion syndrome 4A (Alpers type)
 primary_id: OMIM:203700
 alt_id: RDO:9004326
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mitochondrial DNA depletion syndrome 4A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fanci FA complementation group I JBrowse link 1 141,116,565 141,172,997 RGD:8554872
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
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  disease 14823
    Nutritional and Metabolic Diseases 4250
      disease of metabolism 4250
        Metabolic Brain Diseases 441
          mitochondrial encephalomyopathy 43
            mitochondrial DNA depletion syndrome 4A 2
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 encephalomyopathy 43
                        mitochondrial DNA depletion syndrome 4A 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.