|OBO ID: DOID:0111515|
|Term Name:||autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2||Search Ontology:|
|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|
|Ontology:||Human Disease (DOID:0111515)|
|is a type of:||
OTHER autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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