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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Neoplastic Syndromes, Hereditary > Birt-Hogg-Dube Syndrome
Neoplasms > Neoplastic Syndromes, Hereditary > Birt-Hogg-Dube Syndrome

Preferred term

Birt-Hogg-Dube Syndrome  

Type

  • Topical Descriptor

Broader concept

Entry terms

  • Birt-Hogg-Dubé Syndrome
  • Fibrofolliculomas with Trichodiscomas and Acrochordons
  • Hornstein-Birt-Hogg-Dubé Syndrome
  • Hornstein-Knickenberg Syndrome

Scope note

  • Autosomal dominant neoplastic syndrome characterised by genodermatosis, lung cysts, spontaneous and recurrent PNEUMOTHORAX; and RENAL CANCER. It is associated with mutations in the folliculin protein gene (FLCN protein).

History note

  • 2011

In other languages

URI

http://www.yso.fi/onto/mesh/D058249

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