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 3 ID (Ontology) DOID:0111520 (Human Disease)
Definition A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the TWNK gene on chromosome 10q24.31.
Also Known As "autosomal dominant progressive external ophthalmoplegia 3" ; "PEOA3"
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Data Class Field Records
Human Disease Models (FBhh)  DOID       1
show Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
 Full annotation statements 
Relevant FlyBase reports
 Alleles Genes Human Disease Models
 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3       5      2      1
 for disease ribbon | autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3       --       1       --
 model of | autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3       3      1       --
 DOES NOT ameliorate | autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3       2       --       --
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 3  8 rec.
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Is a autosomal dominant disease
chronic progressive external ophthalmoplegia
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Synonyms
  • "autosomal dominant progressive external ophthalmoplegia 3" EXACT
    "PEOA3" EXACT OMO:0003012
Secondary IDs
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MIM:609286