Preferred Name

Birt-Hogg-Dube Syndrome [Disease/Finding]

Synonyms

Birt-Hogg-Dubé Syndrome

ID

http://purl.bioontology.org/ontology/NDFRT/N0000182194

altLabel

Birt-Hogg-Dubé Syndrome

Hornstein-Birt-Hogg-Dubé Syndrome

Fibrofolliculomas with Trichodiscomas and Acrochordons

Birt-Hogg-Dube Syndrome

Hornstein-Knickenberg Syndrome

cui

C0346010

MESH DEFINITION

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).

MESH DUI

D058249

MeSH name

Birt-Hogg-Dube Syndrome

MESH UI

M0541547

NDFRT kind

DISEASE_KIND

notation

N0000182194

NUI

N0000182194

prefLabel

Birt-Hogg-Dube Syndrome [Disease/Finding]

tui

T047

subClassOf

http://purl.bioontology.org/ontology/NDFRT/N0000002145

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