| Term Name: | autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 6 |
|---|---|
| Synonyms: | PEOB6 |
| Definition: | A chronic progressive external ophthalmoplegia characterized by ptosis and ophthalmoplegia as well as other clinical manifestations and multiple mtDNA deletions in muscle that has_material_basis_in homozygous mutation in the RRM1 gene on chromosome 11p15. |
| Ontology: | Human Disease [DOID:0070759] ( DOID:0070759 ) |