progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the RNASEH1 gene.
MONDO:0000090
progressive external ophthalmoplegia with mitochondrial DNA deletions
is_a
MONDO:0018002
adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
is_a
PEOB2
related
RNASEH1 progressive external ophthalmoplegia with mitochondrial DNA deletions
exact
progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in RNASEH1
exact
progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
exact
progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 2
exact
SPBC336.06c