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ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5
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Accession:DOID:0111524 term browser browse the term
Definition:A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in TOP3A on chromosome 17p11.2. (DO)
Synonyms:exact_synonym: PEOB5;   progressive external ophthalmoplegia, autosomal recessive 5
 primary_id: OMIM:618098
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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

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Path 1
Term Annotations click to browse term
  disease 15503
    sensory system disease 4666
      eye disease 2226
        ocular motility disease 114
          ophthalmoplegia 52
            chronic progressive external ophthalmoplegia 26
              Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive 6
                autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 1
Path 2
Term Annotations click to browse term
  disease 15503
    disease of anatomical entity 14857
      nervous system disease 10273
        peripheral nervous system disease 2171
          neuropathy 1996
            neuromuscular disease 1566
              muscular disease 1007
                muscle tissue disease 694
                  myopathy 559
                    mitochondrial myopathy 81
                      chronic progressive external ophthalmoplegia 26
                        Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive 6
                          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.