osteogenesis imperfecta type 5
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).
MONDO:0800064
osteogenesis imperfecta and a reduction of bone mineral density.
is_a
IFITM5 osteogenesis imperfecta
exact
OI type 5
exact
OI type V
related
OI with calcification in interosseous membranes
related
OI5
exact
osteogenesis imperfecta caused by mutation in IFITM5
exact
osteogenesis imperfecta, type V
related
type V OI
related