Search Ontology:
Human Disease

autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2

Term ID
DOID:0111515
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. https://www.ncbi.nlm.nih.gov/pubmed/26094573
References
Ontology
Human Disease   ( DOID:0111515 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models