FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Brooke-Spiegler syndrome ID (Ontology) DOID:0050693 (Human Disease)
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.
Also Known As "BRSS" ; "BSS" ; "CYLD cutaneous syndrome" (for all, see Synonyms field below)
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 Genes
 Brooke-Spiegler syndrome       1
 for disease ribbon | Brooke-Spiegler syndrome       1
 model of | Brooke-Spiegler syndrome       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
integumentary system disease    |
 |__skin disease________________|
                                Brooke-Spiegler syndrome  1 rec.
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Is a autosomal dominant disease
skin disease
Part of
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Synonyms
  • "BRSS" EXACT OMO:0003012
    "BSS" EXACT OMO:0003012
    "CYLD cutaneous syndrome" EXACT
    "SBS" EXACT OMO:0003012
    "Spiegler-Brooke Syndrome" EXACT
Secondary IDs
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GARD:10179
MIM:605041
ORDO:79493
SNOMEDCT_US_2023_03_01:703531009
UMLS_CUI:C1857941