Term Name: | Birt-Hogg-Dube syndrome |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0050676] ( DOID:0050676 ) |