Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/OMIM/617119 http://purl.bioontology.org/ontology/OMIM/617119
Preferred Name	BARDET-BIEDL SYNDROME 22
Synonyms	BBS20, FORMERLY BARDET-BIEDL SYNDROME 20, FORMERLY BBS22
Type	http://www.w3.org/2002/07/owl#Class

altLabel	BBS20, FORMERLY BARDET-BIEDL SYNDROME 20, FORMERLY BBS22
prefLabel	BARDET-BIEDL SYNDROME 22
Gene Symbol	IFT74 JBTS40 BBS22 CMG1 SPGF58 CCDC2 See more See less
notation	617119
Scope Statement	Based on descriptions of 3 patients (last curated August 2021) [MISCELLANEOUS] Some patients have no cognitive impairment [MISCELLANEOUS] Caused by mutation in the intraflagellar transport 74 gene (IFT74, 608040.0001) [MOLECULAR BASIS]
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/MTHU004435 http://purl.bioontology.org/ontology/OMIM/MTHU036340 http://purl.bioontology.org/ontology/OMIM/MTHU061712 http://purl.bioontology.org/ontology/OMIM/MTHU002153 http://purl.bioontology.org/ontology/OMIM/MTHU003279 http://purl.bioontology.org/ontology/OMIM/MTHU000322 http://purl.bioontology.org/ontology/OMIM/MTHU000132 http://purl.bioontology.org/ontology/OMIM/MTHU030127 http://purl.bioontology.org/ontology/OMIM/MTHU002571 http://purl.bioontology.org/ontology/OMIM/MTHU000250 http://purl.bioontology.org/ontology/OMIM/MTHU007674 See more See less
MIMTYPEMEANING	Phenotype description, molecular basis known.
Gene Locus	9p21.2
tui	T047
cui	C5561936

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