Term Name: osteogenesis imperfecta type 12
Synonyms: OI12, osteogenesis imperfecta type XII
Definition: An osteogenesis imperfecta that has_material_basis_in mutation in the SP7 gene on chromosome 12q13.
Ontology: Human Disease [DOID:0110348]   ( DOID:0110348 )

Relationships
is a type of: autosomal recessive disease osteogenesis imperfecta