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 )