Term Name: autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5
Synonyms: autosomal recessive progressive external ophthalmoplegia 5, PEOB5
Definition: A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in the TOP3A gene on chromosome 17p11.2.
Ontology: Human Disease [DOID:0111524]   ( DOID:0111524 )

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