autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5

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Summary

Literature (0)

DOID:0111518 - autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5

Disease Ontology Definition:A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the RRM2B gene on chromosome 8q22.3.

Synonyms: autosomal dominant progressive external ophthalmoplegia 5, PEOA5

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

: rrm2b

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)