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DO Term : autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 [DOID:0111519] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A chronic progressive external ophthalmoplegia characterized by muscle weakness, mainly affecting the lower limbs, external ophthalmoplegia, exercise intolerance and mtDNA deletions that has_material_basis_in heterozygous mutation in the DNA2 gene on chromosome 10q21.3.
  • synonyms:
  • mitochondrial DNA deletion syndrome with progressive myopathy,
  • mtDNA deletion syndrome with limb-girdle weakness,
  • autosomal dominant progressive external ophthalmoplegia 6,
  • mitochondrial DNA deletion syndrome with limb-girdle weakness,
  • PEOA6,
  • mtDNA deletion syndrome with progressive myopathy,
  • DNA2-related mitochondrial DNA deletion syndrome,
  • ORDO:352470,
  • 615156,
  • OMIM:615156
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Ontology

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