autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4

Term ID

DOID:0111525

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. https://www.ncbi.nlm.nih.gov/pubmed/16685652

References

• MIM:610131

Ontology

Human Disease   ( DOID:0111525 )