Orphanet: Autosomal recessive malignant osteopetrosis

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Autosomal recessive malignant osteopetrosis

Disease definition

Infantile malignant osteopetrosis is a rare congenital disorder of bone resorption characterised by generalised skeletal densification.


Classification level: Disorder
  • Synonym(s):
    • Infantile malignant osteopetrosis
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q78.2
  • OMIM: 259700  259710  611490  615085
  • UMLS: C1318518
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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