progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the SLC25A4 gene.
MONDO:0008003
autosomal dominant progressive external ophthalmoplegia
is_a
PEOA2
related
SLC25A4 progressive external ophthalmoplegia with mitochondrial DNA deletions
exact
progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in SLC25A4
exact
progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
exact
progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 2
exact
SPBC530.10c