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Summary Literature (0)
DOID:0050676 - Birt-Hogg-Dube syndrome

Disease Ontology Definition:A skin disease that is characterized by hair follicle hamartomas, kidney tumors, and spontaneous pneumothorax, has_material_basis_in heterozygous mutation in the gene encoding folliculin (FLCN) on chromosome 17p11.

Synonyms:

Xenbase Genes : flcn

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0007607 - obsolete Birt-Hogg-Dube syndrome

MIM:
MIM:135150 - BIRT-HOGG-DUBE SYNDROME; BHD

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), skin disease (is_a)