autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 (DOID:0111524)
Alliance: disease page
Synonyms: autosomal recessive progressive external ophthalmoplegia 5; PEOB5
Alt IDs: OMIM:618098
Definition: A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in the TOP3A gene on chromosome 17p11.2.