Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025
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Id http://purl.bioontology.org/ontology/OMIM/600630
http://purl.bioontology.org/ontology/OMIM/600630
Preferred Name

UV-SENSITIVE SYNDROME 1
Synonyms
UVSS1
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
UVSS1
prefLabel
UV-SENSITIVE SYNDROME 1
Gene Symbol
POF11
ERCC6
CSB
ARMD5
UVSS1
COFS1
CKN2
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notation
600630
Scope Statement
Two unrelated Japanese patients have been reported (last curated May 2012) [MISCELLANEOUS]
No predisposition to skin tumor development [MISCELLANEOUS]
Onset in infancy [MISCELLANEOUS]
Caused by mutation in the ERCC excision repair 6, chromatin remodeling factor gene (ERCC6, 609413.0009) [MOLECULAR BASIS]
OMIM MimType Value
pound
Has inheritance type
Semantic type UMLS property
OMIM Entry Type
3
type
Has manifestation
MIMTYPEMEANING
Phenotype description, molecular basis known.
Gene Locus
10q11
tui
T047
cui
C3551173
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