autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4

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Summary

Literature (0)

DOID:0111525 - autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4

Disease Ontology Definition:A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the POLG2 gene on chromosome 17q23.3.

Synonyms: PEOA4, autosomal dominant progressive external ophthalmoplegia 4,

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

: polg2

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)