Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3

Definition

Any autosomal recessive progressive external ophthalmoplegia in which the cause of the disease is a mutation in the TK2 gene.

Also known as autosomal recessive progressive external ophthalmoplegia caused by mutation in TK2, PEOB3, progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3; PEOB3, progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 3, TK2 autosomal recessive progressive external ophthalmoplegia — per MONDO

Also identified as

• DOID 0111523 per MONDO
• OMIM 617069 per MONDO
• UMLS C4310734 per MONDO