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ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6
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Accession:DOID:0111519 term browser browse the term
Definition:A chronic progressive external ophthalmoplegia characterized by muscle weakness, mainly affecting the lower limbs, external ophthalmoplegia, exercise intolerance and mtDNA deletions that has_material_basis_in heterozygous mutation in DNA2 on chromosome 10q21.3. (DO)
Synonyms:exact_synonym: DNA2-related mitochondrial DNA deletion syndrome;   PEOA6;   mitochondrial DNA deletion syndrome with limb-girdle weakness;   mitochondrial DNA deletion syndrome with progressive myopathy;   mtDNA deletion syndrome with limb-girdle weakness;   mtDNA deletion syndrome with progressive myopathy;   progressive external ophthalmoplegia, autosomal dominant 6
 primary_id: OMIM:615156
 xref: ORDO:352470
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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 dominant disease 2310
                autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 0
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
                        autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 0
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.