Online Mendelian Inheritance in Man - JOUBERT SYNDROME 40 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/619582 http://purl.bioontology.org/ontology/OMIM/619582
Preferred Name	JOUBERT SYNDROME 40
Synonyms	JBTS40
Type	http://www.w3.org/2002/07/owl#Class

altLabel	JBTS40
prefLabel	JOUBERT SYNDROME 40
Gene Symbol	IFT74 JBTS40 BBS22 CMG1 SPGF58 CCDC2 See more See less
Scope Statement	Caused by mutation in the intraflagellar transport-74 gene (IFT74, 608040.0005) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000629 http://purl.bioontology.org/ontology/OMIM/MTHU074328 http://purl.bioontology.org/ontology/OMIM/MTHU004614 http://purl.bioontology.org/ontology/OMIM/MTHU000379 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU015093 http://purl.bioontology.org/ontology/OMIM/MTHU066554 http://purl.bioontology.org/ontology/OMIM/MTHU074326 http://purl.bioontology.org/ontology/OMIM/MTHU040758 http://purl.bioontology.org/ontology/OMIM/MTHU037147 http://purl.bioontology.org/ontology/OMIM/MTHU074327 http://purl.bioontology.org/ontology/OMIM/MTHU074325 http://purl.bioontology.org/ontology/OMIM/MTHU074324 http://purl.bioontology.org/ontology/OMIM/MTHU011401 http://purl.bioontology.org/ontology/OMIM/MTHU011406 http://purl.bioontology.org/ontology/OMIM/MTHU064767 http://purl.bioontology.org/ontology/OMIM/MTHU037872 See more See less
tui	T047
Gene Locus	9p21.2
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	619582
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C5562007
OMIM Entry Type	3
OMIM MimType Value	pound

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