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Osteogenesis Imperfecta

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.

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Tree Number(s): C05.116.099.708.685, C16.320.737, C17.300.200.540

MeSH Unique ID: D010013

Entry Terms:

  • Fragilitas Ossium
  • Ossiums, Fragilitas
  • Brittle Bone Disease
  • Lobstein's Disease
  • Disease, Lobstein's
  • Lobsteins Disease
  • Lobstein Disease
  • Disease, Lobstein
  • Osteogenesis Imperfecta Tarda
  • Osteogenesis Imperfecta Tardas
  • Osteogenesis Imperfecta with Blue Sclerae
  • Osteogenesis Imperfecta, Type 1
  • Osteogenesis Imperfecta, Type I

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