| Metadata | |
|---|---|
| ID | DOID:0111518 |
| Name | autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 |
| Definition | A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the RRM2B gene on chromosome 8q22.3. https://www.ncbi.nlm.nih.gov/pubmed/19664747 |
| Xrefs | |
| Synonyms |
autosomal dominant progressive external ophthalmoplegia 5 [EXACT] PEOA5 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |