FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 ID (Ontology) DOID:0111519 (Human Disease)
Definition 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.
Also Known As "autosomal dominant progressive external ophthalmoplegia 6" ; "DNA2-related mitochondrial DNA deletion syndrome" ; "mitochondrial DNA deletion syndrome with limb-girdle weakness" (for all, see Synonyms field below)
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 Genes
 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6       1
 for disease ribbon | autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6       1
 model of | autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease____________________
mitochondrial myopathy                            |
 |__chronic progressive external ophthalmoplegia__|
                                                  autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6  1 rec.
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Is a autosomal dominant disease
chronic progressive external ophthalmoplegia
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Synonyms
  • "autosomal dominant progressive external ophthalmoplegia 6" EXACT
    "DNA2-related mitochondrial DNA deletion syndrome" EXACT
    "mitochondrial DNA deletion syndrome with limb-girdle weakness" EXACT
    "mitochondrial DNA deletion syndrome with progressive myopathy" EXACT
    "mtDNA deletion syndrome with limb-girdle weakness" EXACT
    "mtDNA deletion syndrome with progressive myopathy" EXACT
    "PEOA6" EXACT OMO:0003012
Secondary IDs
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MIM:615156
ORDO:352470