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Neurofibromatosis type 1

Disease definition

Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous genetic disorder characterized by café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas.

ORPHA:636

  • Synonym(s):
    • NF1
    • Von Recklinghausen disease
  • Prevalence: 1-5 / 10 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q85.0
  • OMIM: 162200  162210  613675
  • UMLS: C0027831
  • MeSH: C538607  D009456
  • GARD: 7866
  • MedDRA: 10047712

Detailed information

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