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Autosomal dominant osteopetrosis type 1

Disease definition

Autosomal dominant osteopetrosis type I (ADO I) is a sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.

ORPHA:2783

  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Adolescent, Childhood
  • ICD-10: Q78.2
  • OMIM: 607634
  • UMLS: C1843330  C2931097
  • MeSH: C536056
  • GARD: 4151
  • MedDRA: -

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