Term Name: | autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3 |
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Synonyms: | autosomal recessive progressive external ophthalmoplegia 3, PEOB3 |
Definition: | A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in TK2 on chromosome 16q21. |
Ontology: | Human Disease [DOID:0111523] ( DOID:0111523 ) |