Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/OMIM/615991 http://purl.bioontology.org/ontology/OMIM/615991
Preferred Name	BARDET-BIEDL SYNDROME 14
Synonyms	BBS14
Type	http://www.w3.org/2002/07/owl#Class

altLabel	BBS14
prefLabel	BARDET-BIEDL SYNDROME 14
Gene Symbol	SLSN6 3H11AG KIAA0373 CEP290 BBS14 JBTS5 LCA10 See more See less
notation	615991
Scope Statement	Caused by mutation in the 290-kD centrosomal protein (CEP290, 610142.0013) [MOLECULAR BASIS] One patient with limited clinical information has been reported (last curated October 2014) [MISCELLANEOUS]
OMIM MimType Value	pound
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
OMIM Entry Type	3
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000185 http://purl.bioontology.org/ontology/OMIM/MTHU000322 http://purl.bioontology.org/ontology/OMIM/MTHU000133 http://purl.bioontology.org/ontology/OMIM/MTHU047531 http://purl.bioontology.org/ontology/OMIM/MTHU000250
MIMTYPEMEANING	Phenotype description, molecular basis known.
Gene Locus	12q21.3
tui	T047
cui	C2673874

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