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Birt-Hogg-Dube syndrome
Summary
- 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.
- Super Class
- autosomal dominant disease skin disease
External Links
- Disease Ontology
- DOID:0050676
- Mondo Disease Ontology
- MeSH
- OMIM
- GARD
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
