OBO ID: DOID:0111515
Term Name: autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 Search Ontology:
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 RNASEH1 on chromosome 2p25.3. https://www.ncbi.nlm.nih.gov/pubmed/26094573
References:
Ontology: Human Disease   (DOID:0111515)
OTHER autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
RNASEH1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 616479
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None