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autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5
Summary
- Synonym
-
- PEOB5
- autosomal recessive progressive external ophthalmoplegia 5
- Definition
- A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in the TOP3A gene on chromosome 17p11.2.
- Super Class
- autosomal recessive disease chronic progressive external ophthalmoplegia
External Links
- Disease Ontology
- DOID:0111524
- Mondo Disease Ontology
- OMIM
