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Concept information

disease > genetic disease > hereditary disease > Recklinghausen's neurofibromatosis
disease > skin appendages disease > skin disease > Recklinghausen's neurofibromatosis
disease > tumor > benign neoplasm > neurofibromatosis > Recklinghausen's neurofibromatosis
disease > nervous system diseases > neurofibromatosis > Recklinghausen's neurofibromatosis
disease > congenital disease > phacomatosis > neurofibromatosis > Recklinghausen's neurofibromatosis

Preferred term

Recklinghausen's neurofibromatosis  

Definition(s)

  • Neurofibromatosis type I (NF-1) is a complex multi-system human disorder caused by the mutation of a gene on chromosome 17 that is responsible for production of a protein called neurofibromin which is needed for normal function in many human cell types. (Wikipedia)

Broader concept(s)

Synonym(s)

  • von Recklinghausen's neurofibromatosis

In other languages

URI

http://data.loterre.fr/ark:/67375/VH8-G9BHQL64-S

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