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Osteogenesis imperfecta type 3

Disease definition

Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI; see this term).

ORPHA:216812

  • Synonym(s):
    • OI type 3
    • Progressive deforming osteogenesis imperfecta
    • Severe osteogenesis imperfecta
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q78.0
  • OMIM: 259420  259440  610682  610915  610968  613848  613982  614856  615220  616229
  • UMLS: C0268362
  • MeSH: C536044
  • GARD: 8695
  • MedDRA: -

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