Mondo Description Any osteogenesis imperfecta in which the cause of the disease is a mutation in the BMP1 gene.

Uniprot Description An autosomal recessive 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. OI13 is characterized by normal teeth, faint blue sclerae, severe growth deficiency, borderline osteoporosis, severe bone deformity, and recurrent fractures affecting both upper and lower limbs.

Disease Ontology Description An osteogenesis imperfecta that has_material_basis_in mutation in the BMP1 gene on chromosome 8p21.