Osteogenesis imperfecta
Definition: 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.
Synonyms (terms occurring on more labels are shown first): Osteogenesis Imperfecta
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