FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term osteogenesis imperfecta type 12 ID (Ontology) DOID:0110348 (Human Disease)
Definition An osteogenesis imperfecta that has_material_basis_in mutation in the SP7 gene on chromosome 12q13.
Also Known As "OI12" ; "osteogenesis imperfecta type XII"
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
 osteogenesis imperfecta type 12       1
 for disease ribbon | osteogenesis imperfecta type 12       1
 model of | osteogenesis imperfecta type 12       1
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal genetic disease
 |__autosomal recessive disease__
osteochondrodysplasia            |
 |__osteogenesis imperfecta______|
                                 osteogenesis imperfecta type 12  1 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a autosomal recessive disease
osteogenesis imperfecta
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "OI12" EXACT OMO:0003012
    "osteogenesis imperfecta type XII" EXACT
Secondary IDs
hide External Crossreferences & Linkouts
ICD10CM:Q78.0
MIM:613849