| umls-concept:C0029434 | skos:definition | MSH: 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.,CSP: autosomal dominant collagen disease resulting from defective biosynthesis of collagen type I and characterized by brittle, osteoporotic, and easily fractured bones; may also present with blue sclerae, loose joints, and imperfect dentin formation.,MEDLINEPLUS: <p>Osteogenesis imperfecta (OI) is a genetic disorder in which bones break easily. Sometimes the bones break for no known reason. OI can also cause weak muscles, brittle teeth, a curved spine and hearing loss. The cause is a gene defect that affects how you make collagen, a protein that helps make bones strong. Usually you inherit the faulty gene from a parent. Sometimes, it is due to a mutation, a random gene change.</p><p>OI can range from mild to severe and symptoms vary from person to p | lld:umls |
