Term Name: autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2
Synonyms: adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy, adult-onset CPEO with mitochondrial myopathy, autosomal recessive progressive external ophthalmoplegia 2, PEOB2
Definition: A chronic progressive external ophthalmoplegia characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, and signs and symptoms of spinocerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the RNASEH1 gene on chromosome 2p25.3.
Ontology: Human Disease [DOID:0111515]   ( DOID:0111515 )

Relationships
is a type of: autosomal recessive disease chronic progressive external ophthalmoplegia