| 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 ) |