OBO ID: DOID:0111515 |
Term Name: | autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 | Search Ontology: | |
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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 | ||
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Ontology: | Human Disease ( DOID:0111515 ) |
OTHER autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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