Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2

Definition

Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the SLC25A4 gene.

Also known as progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in SLC25A4, progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 2, SLC25A4 progressive external ophthalmoplegia with mitochondrial DNA deletions — per MONDO

Also identified as

• DOID 0111517 per MONDO
• MESH C563750 per MONDO
• OMIM 609283 per MONDO
• UMLS C1836460 per MONDO