Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1

Definition

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

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

Also identified as

• DOID 0111522 per MONDO
• OMIM 258450 per MONDO
• UMLS C4225153 per MONDO