OBO ID: DOID:0111524 |
Term Name: | autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 | Search Ontology: | |
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Definition: | A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in the TOP3A gene on chromosome 17p11.2. https://www.ncbi.nlm.nih.gov/pubmed/29290614 | ||
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Ontology: | Human Disease ( DOID:0111524 ) |
OTHER autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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