OBO ID: DOID:0050693
Term Name: Brooke-Spiegler syndrome Search Ontology:
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
  • OMIM:605041
  • ORDO:79493
  • SNOMEDCT_US_2023_03_01:703531009
  • UMLS_CUI:C1857941
Ontology: Human Disease   ( DOID:0050693 )
Relationships
is a type of:
OTHER Brooke-Spiegler syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CYLD Brooke-Spiegler syndrome 605041
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.
Please check the highlighted fields and try again.
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.