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Osteogenesis imperfecta type 1
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Disease definition
A mild form of osteogenesis imperfecta (OI) characterized by increased bone fragility and low bone mass that clinically manifests with increased susceptibility to bone fractures (including vertebral crush fractures), normal height or short stature (typically between 0 and -2.0 SD scores), mild (Cobb angle <30 degrees) or no scoliosis, blue sclera, and in dentinogenesis imperfecta, and mild long bone bowing bone deformities.
ORPHA:216796
Detailed information
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: produced/endorsed by FSMR(s)
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Research activities on this disease
- Research project(s) (61)
- Clinical trial(s) (6)
- Biobank(s) (10)
- Registry(ies) (30)
- Network of experts (6)
Newborn screening
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