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Osteogenesis imperfecta type 1

Disease definition

Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures.

ORPHA:216796

  • Synonym(s):
    • Adair-Dighton syndrome
    • Mild osteogenesis imperfecta
    • Non-deforming osteogenesis imperfecta
    • OI type 1
    • Van der Hoeve syndrome
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood
  • ICD-10: Q78.0
  • OMIM: 166200  166230
  • UMLS: -
  • MeSH: -
  • GARD: 8694
  • MedDRA: -

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