Mondo Description Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SP7 gene.

Uniprot Description A form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI12 is an autosomal recessive form characterized by recurrent fractures, mild bone deformations, generalized osteoporosis, delayed teeth eruption, no dentinogenesis imperfecta, normal hearing, and white sclerae.

Disease Ontology Description An osteogenesis imperfecta that has_material_basis_in mutation in the SP7 gene on chromosome 12q13.