Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4

Definition

Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the POLG2 gene.

Also known as POLG2 progressive external ophthalmoplegia with mitochondrial DNA deletions, progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in POLG2, progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 4 — per MONDO

Also identified as

• DOID 0111525 per MONDO
• MESH C566437 per MONDO
• OMIM 610131 per MONDO
• UMLS C1864668 per MONDO