Term Name: | autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 |
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Synonyms: | autosomal dominant progressive external ophthalmoplegia 3, PEOA3 |
Definition: | A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the TWNK gene on chromosome 10q24.31. |
Ontology: | Human Disease [DOID:0111520] ( DOID:0111520 ) |