Term Name: autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3
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 )

Relationships
is a type of: autosomal dominant disease chronic progressive external ophthalmoplegia