Brooke-Spiegler syndrome
Information
- Disease name
- Brooke-Spiegler syndrome
- Disease ID
- DOID:0050693
- 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." [url:https\://rarediseases.info.nih.gov/diseases/10179/brooke-spiegler-syndrome]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:37
- Cross Reference ID (Disease Ontology)
- GARD:10179
- Cross Reference ID (Disease Ontology)
- MIM:605041
- Cross Reference ID (Disease Ontology)
- ORDO:79493
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:703531009
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C1857941
- Exact Synonym (Disease Ontology)
- BRSS
- Exact Synonym (Disease Ontology)
- BSS
- Exact Synonym (Disease Ontology)
- CYLD cutaneous syndrome
- Exact Synonym (Disease Ontology)
- SBS
- Exact Synonym (Disease Ontology)
- Spiegler-Brooke Syndrome
- OrphaNumber from OrphaNet (Orphanet)
- 79493