Term Name: autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4
Synonyms: autosomal dominant progressive external ophthalmoplegia 4, PEOA4
Definition: A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the POLG2 gene on chromosome 17q23.3.
Ontology: Human Disease [DOID:0111525]   ( DOID:0111525 )

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