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 4 ID (Ontology) DOID:0111516 (Human Disease)
Definition A chronic progressive external ophthalmoplegia characterized by adult onset of eye muscle weakness and proximal limb muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the DGUOK gene on chromosome 2p13.1.
Also Known As "adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency" ; "adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency" ; "autosomal recessive progressive external ophthalmoplegia 4" (for all, see Synonyms field below)
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 Genes
 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4       1
 for disease ribbon | autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4       1
 model of | autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4       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 4  1 rec.
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Is a autosomal recessive disease
chronic progressive external ophthalmoplegia
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Synonyms
  • "adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency" EXACT
    "adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency" EXACT
    "autosomal recessive progressive external ophthalmoplegia 4" EXACT
    "PEOB4" EXACT OMO:0003012
Secondary IDs
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MIM:617070
ORDO:329314