Brooke-Spiegler Syndrome
Disease ID: disease_node_20189
Connections displayed (default: 10).
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| Dbxref | GARD:10179, MIM:605041, ORDO:79493, SNOMEDCT_US_2023_03_01:703531009, UMLS_CUI:C1857941 |
|---|---|
| Subclassof | DOID_0050736, DOID_37 |
| Data Source | DOID |
| Synonyms | BRSS, BSS, CYLD cutaneous syndrome, SBS, Spiegler-Brooke Syndrome |
| Doid Label | Brooke-Spiegler syndrome |
| Doid Description | A skin disease that is characterized by the development of several types of tumors from the skin, has_material_basis_in heterozygous mutation in the CYLD gene on chromosome 16q12. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_20189 |
| Doid Id | DOID_0050693 |
| Label | Brooke-Spiegler Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Skin Diseases, Genetic(ID:disease_node_6970) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Skin Diseases(ID:disease_node_6968) (Disease)