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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Brooke-Spiegler syndrome
Summary
- Synonym
-
- BRSS
- BSS
- CYLD cutaneous syndrome
- SBS
- Spiegler-Brooke Syndrome
- Definition
- 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.
- Super Class
- autosomal dominant disease skin disease
External Links
- Disease Ontology
- DOID:0050693
- Mondo Disease Ontology
- UMLS
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q86Y38 | Xylosyltransferase 1 | |
| Q8IY17 | Patatin-like phospholipase domain-containing protein 6 |
