Term Name: | autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 |
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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 ) |