FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term Teebi hypertelorism syndrome 1 ID (Ontology) DOID:0080698 (Human Disease)
Definition A Teebi hypertelorism syndrome that has_material_basis_in mutation in heterozygous mutation in the SPECC1L gene on chromosome 22q11.2 or heterozygous deletion at chromosome 22q11.2.
Also Known As "Opitz GBBB syndrome type II" ; "SPECC1L-related hypertelorism syndrome" ; "Teebi hypertelorism syndrome-1"
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
 Teebi hypertelorism syndrome 1       1
 for disease ribbon | Teebi hypertelorism syndrome 1       1
 model of | Teebi hypertelorism syndrome 1       1
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal genetic disease
 |__autosomal dominant disease____
syndrome                          |
 |__Teebi hypertelorism syndrome__|
                                  Teebi hypertelorism syndrome 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
Teebi hypertelorism syndrome
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "Opitz GBBB syndrome type II" EXACT
    "SPECC1L-related hypertelorism syndrome" EXACT
    "Teebi hypertelorism syndrome-1" EXACT
Secondary IDs
hide External Crossreferences & Linkouts
MIM:145420
ORDO:1519