FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term congenital fibrosis of the extraocular muscles 1 ID (Ontology) DOID:0081015 (Human Disease)
Definition A congenital fibrosis of the extraocular muscles that is characterized by bilateral blepharoptosis and ophthalmoplegia with the eyes fixed in an infraducted position about 20 to 30 degrees below the horizontal midline and that has_material_basis_in heterozygous mutation in the KIF21A gene on chromosome 12q12.
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
 congenital fibrosis of the extraocular muscles 1       1
 for disease ribbon | congenital fibrosis of the extraocular muscles 1       1
 model of | congenital fibrosis of the extraocular muscles 1       1
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal genetic disease
 |__autosomal dominant disease______________________
physical disorder                                   |
 |__congenital fibrosis of the extraocular muscles__|
ocular motility disease                             |
 |__congenital fibrosis of the extraocular muscles__|
                                                    congenital fibrosis of the extraocular muscles 1  1 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a autosomal dominant disease
congenital fibrosis of the extraocular muscles
Part of
hide Synonyms & Secondary IDs
Synonyms
Secondary IDs
hide External Crossreferences & Linkouts
MIM:135700