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DeCS
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Descriptor English:
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Birt-Hogg-Dube Syndrome
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Descriptor Spanish:
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Síndrome de Birt-Hogg-Dubé
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Descriptor Portuguese:
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Síndrome de Birt-Hogg-Dubé
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Synonyms English:
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Birt Hogg Dube Syndrome
Birt-Hogg-Dubé Syndrome
Fibrofolliculomas with Trichodiscomas and Acrochordons
Hornstein-Birt-Hogg-Dubé Syndrome
Hornstein-Knickenberg Syndrome
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Tree Number:
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C04.700.212
C16.320.700.212
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Definition English:
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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). |
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History Note English:
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2011
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Allowable Qualifiers English:
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Record Number:
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53944
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Unique Identifier:
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D058249
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Occurrence in VHL:
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Similar:
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DeCS
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