Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/617121 http://purl.bioontology.org/ontology/OMIM/617121
Preferred Name	JOUBERT SYNDROME 28
Synonyms	JBTS28
Type	http://www.w3.org/2002/07/owl#Class

altLabel	JBTS28
prefLabel	JOUBERT SYNDROME 28
Gene Symbol	MKS1 MKS BBS13 JBTS28
Scope Statement	Two unrelated patients have been reported (last curated September 2016) [MISCELLANEOUS] Caused by mutation in the MKS1 transition zone complex subunit 1 gene (MKS, 609883.0010) [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/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU035437 http://purl.bioontology.org/ontology/OMIM/MTHU000363 http://purl.bioontology.org/ontology/OMIM/MTHU040758 http://purl.bioontology.org/ontology/OMIM/MTHU013555 http://purl.bioontology.org/ontology/OMIM/MTHU036349 http://purl.bioontology.org/ontology/OMIM/MTHU000235 See more See less
tui	T047
Gene Locus	17q23
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	617121
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C4310705
OMIM Entry Type	3
OMIM MimType Value	pound

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