Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1

Definition

Any autosomal dominant progressive external ophthalmoplegia in which the cause of the disease is a mutation in the POLG gene.

Also known as autosomal dominant progressive external ophthalmoplegia caused by mutation in POLG, PEOA1, POLG autosomal dominant progressive external ophthalmoplegia, progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1, progressive external ophthalmoplegia, autosomal dominant 1 — per MONDO

Also identified as

• DOID 0111521 per MONDO
• OMIM 157640 per MONDO
• UMLS C1834846 per MONDO