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Metadata
ID DOID:0050693
Name Brooke-Spiegler 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
Xrefs

GARD:10179

OMIM:605041

ORDO:79493

SNOMEDCT_US_2023_03_01:703531009

UMLS_CUI:C1857941

Subsets

DO_rare_slim

Synonyms

BRSS [EXACT]

BSS [EXACT]

CYLD cutaneous syndrome [EXACT]

SBS [EXACT]

Spiegler-Brooke Syndrome [EXACT]

Parent Relationships

is_a skin disease

is_a autosomal dominant disease

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