Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/605041
http://purl.bioontology.org/ontology/OMIM/605041
Preferred Name

BROOKE-SPIEGLER SYNDROME
Synonyms
BSS
SPIEGLER-BROOKE SYNDROME
SBS
BRSS
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
BSS
SPIEGLER-BROOKE SYNDROME
SBS
BRSS
prefLabel
BROOKE-SPIEGLER SYNDROME
Gene Symbol
MFT1
CYLD
CDMT
BRSS
KIAA0849
EAC
FTDALS8
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Scope Statement
Caused by mutation in the CYLD gene (605018.0003) [MOLECULAR BASIS]
Onset in early adulthood [MISCELLANEOUS]
Allelic disorder to multiple familial trichoepithelioma 1 (MFT1, 601606) and familial cylindromatosis (FC, 132700) [MISCELLANEOUS]
type
Has manifestation
tui
T047
Gene Locus
16q12-q13
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
605041
Semantic type UMLS property
Has inheritance type
cui
C1857941
Moved from
313100
OMIM Entry Type
3
OMIM MimType Value
pound
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