Term Name: Birt-Hogg-Dube syndrome
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 )

Relationships
is a type of: autosomal dominant disease skin disease