FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term Bosch-Boonstra-Schaaf optic atrophy syndrome ID (Ontology) DOID:0112226 (Human Disease)
Definition A syndrome characterized by delayed development, moderate intellectual disability, and optic atrophy that has_material_basis_in heterozygous mutation in the NR2F1 gene on chromosome 5q15.
Also Known As "BBSOAS" ; "optic atrophy-intellectual disability syndrome"
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
 Bosch-Boonstra-Schaaf optic atrophy syndrome       1
 for disease ribbon | Bosch-Boonstra-Schaaf optic atrophy syndrome       1
 model of | Bosch-Boonstra-Schaaf optic atrophy syndrome       1
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal genetic disease
 |__autosomal dominant disease__
disease                         |
 |__syndrome____________________|
                                Bosch-Boonstra-Schaaf optic atrophy syndrome  1 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a autosomal dominant disease
syndrome
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "BBSOAS" EXACT OMO:0003012
    "optic atrophy-intellectual disability syndrome" EXACT
Secondary IDs
hide External Crossreferences & Linkouts
MIM:615722
ORDO:401777