Concept information
Preferred term
Osteogenesis Imperfecta
Type
-
Topical Descriptor
Broader concept
Entry terms
- Brittle Bone Disease
- Fragilitas Ossium
- Ossiums, Fragilitas
Scope note
- 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.
In other languages
-
Finnish
-
Swedish
URI
http://www.yso.fi/onto/mesh/D010013
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