FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 ID (Ontology) DOID:0111524 (Human Disease)
Definition A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in the TOP3A gene on chromosome 17p11.2.
Also Known As "autosomal recessive progressive external ophthalmoplegia 5" ; "PEOB5"
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 Genes
 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5       1
 for disease ribbon | autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5       1
 model of | autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease___________________
mitochondrial myopathy                            |
 |__chronic progressive external ophthalmoplegia__|
                                                  autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5  1 rec.
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Is a autosomal recessive disease
chronic progressive external ophthalmoplegia
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Synonyms
  • "autosomal recessive progressive external ophthalmoplegia 5" EXACT
    "PEOB5" EXACT OMO:0003012
Secondary IDs
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MIM:618098