autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6

Summary

DOID:0111519 - autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6

Disease Ontology 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 the DNA2 gene on chromosome 10q21.3.

Synonyms: autosomal dominant progressive external ophthalmoplegia 6, DNA2-related mitochondrial DNA deletion syndrome, 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, PEOA6

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: dna2

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), chronic progressive external ophthalmoplegia (is_a)