Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3

Definition

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

Also known as progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in TWNK, progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 3, TWNK progressive external ophthalmoplegia with mitochondrial DNA deletions — per MONDO

Also identified as

• DOID 0111520 per MONDO
• MESH C563747 per MONDO
• OMIM 609286 per MONDO
• UMLS C1836439 per MONDO