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Osteogenesis imperfecta type 5

rare

Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI).

Causal genes
IFITM5
Also known as
IFITM5 osteogenesis imperfecta · OI type 5 · OI type V · OI with calcification in interosseous membranes · OI5

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