FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 ID (Ontology) DOID:0111515 (Human Disease)
Definition A chronic progressive external ophthalmoplegia characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, and signs and symptoms of spinocerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the RNASEH1 gene on chromosome 2p25.3.
Also Known As "adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy" ; "adult-onset CPEO with mitochondrial myopathy" ; "autosomal recessive progressive external ophthalmoplegia 2" (for all, see Synonyms field below)
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
    Results list data from multiple species. Click on a button above and use the 'Filter by species' options on the resulting HitList to retrieve species-specific data.
Records annotated with this exact term (annotations to child terms are NOT included)
No relevant records available
show Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
 Full annotation statements 
Relevant FlyBase reports
 Genes
 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2       1
 for disease ribbon | autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2       1
 model of | autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2       1
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal genetic disease
 |__autosomal recessive disease___________________
mitochondrial myopathy                            |
 |__chronic progressive external ophthalmoplegia__|
                                                  autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2  1 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a autosomal recessive disease
chronic progressive external ophthalmoplegia
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy" EXACT
    "adult-onset CPEO with mitochondrial myopathy" EXACT
    "autosomal recessive progressive external ophthalmoplegia 2" EXACT
    "PEOB2" EXACT OMO:0003012
Secondary IDs
hide External Crossreferences & Linkouts
MIM:616479
ORDO:329336