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ONTOLOGY REPORT - ANNOTATIONS


Term:Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive
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Accession:DOID:9005815 term browser browse the term
Synonyms:exact_synonym: Progressive External Ophthalmoplegia, Autosomal Recessive
 narrow_synonym: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, DIGENIC
 primary_id: MESH:C564926
For additional species annotation, visit the Alliance of Genome Resources.


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Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8554872
RGD:11554173
G Twnk twinkle mtDNA helicase JBrowse link 1 264,756,060 264,762,892 RGD:8554872
autosomal recessive progressive external ophthalmoplegia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:7240710
RGD:8554872
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rnaseh1 ribonuclease H1 JBrowse link 6 47,916,188 47,925,582 RGD:8554872
RGD:7240710
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tk2 thymidine kinase 2 JBrowse link 19 917,203 939,236 RGD:8554872
RGD:7240710
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dguok deoxyguanosine kinase JBrowse link 4 115,180,433 115,208,061 RGD:8554872
RGD:7240710
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Top3a DNA topoisomerase III alpha JBrowse link 10 46,980,646 47,018,728 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    Developmental Diseases 8823
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7613
        genetic disease 7096
          monogenic disease 4788
            autosomal genetic disease 3768
              autosomal recessive disease 2118
                Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive 6
                  autosomal recessive progressive external ophthalmoplegia 1 1
                  autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 1
                  autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3 1
                  autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 1
                  autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 1
Path 2
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      nervous system disease 10167
        peripheral nervous system disease 2164
          neuropathy 1988
            neuromuscular disease 1559
              muscular disease 1002
                muscle tissue disease 695
                  myopathy 559
                    mitochondrial myopathy 79
                      chronic progressive external ophthalmoplegia 26
                        Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive 6
                          autosomal recessive progressive external ophthalmoplegia 1 1
                          autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 1
                          autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3 1
                          autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 1
                          autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 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.