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Disease Ontology Browser
Birt-Hogg-Dube syndrome (DOID:0050676)
Alliance: disease page
Alt IDs: OMIM:135150, MESH:D058249
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.

Disease References using Mouse Models (3)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
03/18/2025
MGI 6.24 		The Jackson Laboratory