autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2

Summary

DOID:0111517 - autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2

Disease Ontology Definition:A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the SLC25A4 gene on chromosome 4q35.1.

Synonyms: autosomal dominant progressive external ophthalmoplegia 2, PEOA2

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

: slc25a4

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)