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osteogenesis imperfecta
Used for:
brittle bone disease
Broader Terms:
bone development disorder
Broader Terms:
collagen disorder
Broader Terms:
congenital skeletal disorder
Broader Terms:
genetic disorder
Related Terms:
autosomal dominant trait
Scope Note:
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.
Term Number:
1849-7175
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