autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4

Summary

DOID:0111516 - autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4

Disease Ontology Definition:A chronic progressive external ophthalmoplegia characterized by adult onset of eye muscle weakness and proximal limb muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the DGUOK gene on chromosome 2p13.1.

Synonyms: PEOB4, adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency, adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency, autosomal recessive 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

: dguok

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

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

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