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Keyword Osteogenesis imperfecta

UniProtKB (15) rdf/xml obo
DefinitionProtein which, if defective, causes osteogenesis imperfecta, a bone disorder characterized by low bone mass, and brittle, osteoporotic and easily fractured bones. It may also present with blue sclerae, loose joints, and imperfect dentin formation.
Synonyms Brittle bone disease
Fragilitas ostium
Glass bone disease
Lobstein disease
Lobstein's disease
CategoryDisease
GraphicalOsteogenesis imperfectaDisease