Term Name: | autosomal recessive progressive external ophthalmoplegia 1 |
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Synonyms: | PEOB1 |
Definition: | A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in the POLG gene on chromosome 15q26.1. |
Ontology: | Human Disease [DOID:0111522] ( DOID:0111522 ) |