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Concept information

Preferred term

Osteogenesis Imperfecta  

Type

  • mesh:Descriptor

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.

Entry terms

  • Brittle Bone Disease
  • Fragilitas Ossium

In other languages

  • French

  • Fragilité osseuse constitutionnelle
  • Maladie de l'homme de verre
  • Maladie de Porak et Durante
  • Maladie des os de verre

URI

http://data.loterre.fr/ark:/67375/JVR-G7G13W2X-9

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