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Osteopetrosis and related disorders

Disease definition

Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs.

ORPHA:2781

Classification level: Group of disorders
  • Synonym(s): -
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Autosomal recessive or X-linked recessive 
  • Age of onset: All ages
  • ICD-10: Q78.2
  • OMIM: -
  • UMLS: C0029454
  • MeSH: D010022
  • GARD: 4155
  • MedDRA: 10031280

Detailed information

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.