Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5

Definition

Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the RRM2B gene.

Also known as progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in RRM2B, progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 5, RRM2B progressive external ophthalmoplegia with mitochondrial DNA deletions — per MONDO

Also identified as

• DOID 0111518 per MONDO
• MESH C567768 per MONDO
• OMIM 613077 per MONDO
• UMLS C2751319 per MONDO