Term Name: autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5
Synonyms: autosomal dominant progressive external ophthalmoplegia 5, PEOA5
Definition: A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the RRM2B gene on chromosome 8q22.3.
Ontology: Human Disease [DOID:0111518]   ( DOID:0111518 )

Relationships
is a type of: autosomal dominant disease chronic progressive external ophthalmoplegia