Chapter 17 - Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99)»Congenital malformations and deformations of the musculoskeletal system (Q65-Q79)»Osteogenesis imperfecta (Q78.0)
Q78.0
Osteogenesis imperfecta
Related indications (MeSH) (1)
Osteogenesis Imperfecta25 drugs (17 approved, 8 experimental)
COLLAGEN DISEASES characterized by brittle, osteoporotic, and easily fractured bones. It may also present with blue sclerae, loose joints, and imperfect dentin formation. Most types are autosomal dominant and are associated with mutations in COLLAGEN TYPE I.