| 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 | |
| Subsets |
DO_FlyBase_slim DO_rare_slim |
| Parent Relationships |
is_a autosomal dominant disease is_a skin disease |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |