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 5 ID (Ontology) DOID:0111518 (Human Disease)
Definition A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the RRM2B gene on chromosome 8q22.3.
Also Known As "autosomal dominant progressive external ophthalmoplegia 5" ; "PEOA5"
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 Alleles Genes
 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5       1      2
 for disease ribbon | autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5       --       1
 model of | autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5       1      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 5  3 rec.
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Is a autosomal dominant disease
chronic progressive external ophthalmoplegia
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Synonyms
  • "autosomal dominant progressive external ophthalmoplegia 5" EXACT
    "PEOA5" EXACT OMO:0003012
Secondary IDs
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MIM:613077