Search Ontology:
Human Disease

Brooke-Spiegler syndrome

Term ID
DOID:0050693
Synonyms
  • 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. https://rarediseases.info.nih.gov/diseases/10179/brooke-spiegler-syndrome
References
  • GARD:10179
  • MIM:605041
  • ORDO:79493
  • SNOMEDCT_US_2023_03_01:703531009
  • UMLS_CUI:C1857941
Ontology
Human Disease   ( DOID:0050693 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models