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Disease Osteogenesis Imperfecta

Name Osteogenesis Imperfecta
Synonyms Brittle Bone Disease | Disease, Lobstein | Disease, Lobstein's | Fragilitas Ossium | Lobstein Disease | Lobstein's Disease | Lobsteins Disease | OI1 | OI, TYPE I | Ossiums, Fragilitas | Osteogenesis Imperfecta Tarda | Osteogenesis Imperfecta Tardas | Osteogenesis Imperfecta, Type 1 | Osteogenesis Imperfecta, Type I | Osteogenesis Imperfecta with Blue Sclerae
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.
Categories Connective tissue disease | Genetic disease (inborn) | Musculoskeletal disease
MeSH® ID D010013
OMIM® ID 166200
External Links

Top ↑ Ancestors

1. DiseasesMusculoskeletal Diseases Has associated chemicals Has associated genes Has associated exposure references Bone Diseases Has associated chemicals Has associated genes Has associated exposure references Bone Diseases, Developmental Has associated chemicals Has associated genes Osteochondrodysplasias Has associated chemicals Has associated genes Osteogenesis Imperfecta Has associated chemicals Has associated genes
2. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Osteogenesis Imperfecta Has associated chemicals Has associated genes
3. DiseasesSkin and Connective Tissue Diseases Has associated chemicals Has associated genes Has associated exposure references Connective Tissue Diseases Has associated chemicals Has associated genes Has associated exposure references Collagen Diseases Has associated chemicals Has associated genes Osteogenesis Imperfecta Has associated chemicals Has associated genes

Top ↑ Descendants

Osteogenesis Imperfecta Has associated chemicals Has associated genes
  Al Gazali Sabrinathan Nair syndrome
  Astley-Kendall syndrome
  Bruck syndrome 1 Has associated genes
  Bruck syndrome 2 Has associated chemicals Has associated genes
  Cole Carpenter syndrome
  GNATHODIAPHYSEAL DYSPLASIA Has associated chemicals Has associated genes
  Grant syndrome
  Lowry Maclean syndrome
  OI-EDS Combined Syndrome
  Osteogenesis imperfecta congenita, microcephaly, and cataracts
  Osteogenesis imperfecta, Levin type
  Osteogenesis imperfecta, type 1A
  Osteogenesis imperfecta, type 2A Has associated chemicals Has associated genes
  Osteogenesis imperfecta, type 2B
  Osteogenesis imperfecta, type 3 Has associated chemicals Has associated genes
  Osteogenesis imperfecta, type 4 Has associated chemicals Has associated genes
  Osteogenesis imperfecta, type 5
  Osteogenesis imperfecta, type 6
  Osteogenesis imperfecta, type 7 Has associated chemicals Has associated genes
  Osteogenesis Imperfecta, Type IX Has associated chemicals Has associated genes
  Osteogenesis Imperfecta, Type V
  Osteogenesis Imperfecta, Type VI
  Osteogenesis Imperfecta Type VII
  Osteogenesis imperfecta, type VIII Has associated chemicals Has associated genes
  Osteogenesis Imperfecta with Opalescent Teeth, Blue Sclerae and Wormian Bones, but Without Fractures
  Osteopenic Nonfracture Syndrome
  Osteoporosis-pseudoglioma syndrome Has associated chemicals Has associated genes