Osteogenesis imperfecta type 12

Definition

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

Also known as OI12, osteogenesis imperfecta caused by mutation in SP7, SP7 osteogenesis imperfecta — per MONDO

Also identified as

• DOID 0110348 per MONDO
• OMIM 613849 per MONDO
• UMLS C3151433 per MONDO