Birt-Hogg-Dube Syndrome
Disease ID: disease_node_12487
Connections displayed (default: 10).
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| Dbxref | GARD:2322, MESH:D058249, MIM:135150 |
|---|---|
| Subclassof | DOID_0050736, DOID_37 |
| Data Source | DOID, MESH |
| Mesh Id | D058249 |
| Mesh Label | Birt-Hogg-Dube Syndrome |
| Mesh Subclassof | D009386 |
| Doid Label | Birt-Hogg-Dube syndrome |
| Doid Description | 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. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_12487 |
| Doid Id | DOID_0050676 |
| Label | Birt-Hogg-Dube Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Skin Diseases(ID:disease_node_6968) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Skin Diseases, Genetic(ID:disease_node_6970) (Disease)