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DO Term : autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 [DOID:0111525] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the POLG2 gene on chromosome 17q23.3.
  • synonyms:
  • OMIM:610131,
  • PEOA4,
  • autosomal dominant progressive external ophthalmoplegia 4,
  • 610131
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