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Metadata
ID	DOID:0050676
Name	Birt-Hogg-Dube syndrome
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. https://rarediseases.org/rare-diseases/birt-hogg-dube-syndrome/
Xrefs	GARD:2322 MESH:D058249 OMIM:135150
Subsets	DO_FlyBase_slim DO_rare_slim
Parent Relationships	is_a skin disease is_a autosomal dominant disease