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ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3
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Accession:DOID:0111520 term browser browse the term
Definition:A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in TWNK on chromosome 10q24.31. (DO)
Synonyms:exact_synonym: PEOA3;   progressive external ophthalmoplegia, autosomal dominant 3
 primary_id: MESH:C563747
 alt_id: OMIM:609286
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autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Twnk twinkle mtDNA helicase JBrowse link 1 264,756,060 264,762,892 RGD:8554872
RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 15502
    Developmental Diseases 8872
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7669
        genetic disease 7157
          monogenic disease 4798
            autosomal genetic disease 3774
              autosomal dominant disease 2239
                autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 1
Path 2
Term Annotations click to browse term
  disease 15502
    disease of anatomical entity 14856
      nervous system disease 10270
        peripheral nervous system disease 2170
          neuropathy 1995
            neuromuscular disease 1565
              muscular disease 1006
                muscle tissue disease 694
                  myopathy 559
                    mitochondrial myopathy 81
                      chronic progressive external ophthalmoplegia 26
                        autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.