Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2

Definition

Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the RNASEH1 gene.

Also known as progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in RNASEH1, progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2, progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 2, RNASEH1 progressive external ophthalmoplegia with mitochondrial DNA deletions — per MONDO

Also identified as

• DOID 0111515 per MONDO
• OMIM 616479 per MONDO
• UMLS C4225312 per MONDO