Online Mendelian Inheritance in Man - JOUBERT SYNDROME 21 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/615636 http://purl.bioontology.org/ontology/OMIM/615636
Preferred Name	JOUBERT SYNDROME 21
Synonyms	JBTS21
Type	http://www.w3.org/2002/07/owl#Class

altLabel	JBTS21
prefLabel	JOUBERT SYNDROME 21
Gene Symbol	CSPP CSPP1 JBTS21
Scope Statement	Caused by mutation in the centrosome spindle pole-associated protein 1 gene (CSPP1, 611654.0001) [MOLECULAR BASIS] Variable severity [MISCELLANEOUS] Variable features [MISCELLANEOUS] May result in early death [MISCELLANEOUS] Prenatal onset [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU044874 http://purl.bioontology.org/ontology/OMIM/MTHU000629 http://purl.bioontology.org/ontology/OMIM/MTHU004398 http://purl.bioontology.org/ontology/OMIM/MTHU004041 http://purl.bioontology.org/ontology/OMIM/MTHU044873 http://purl.bioontology.org/ontology/OMIM/MTHU037029 http://purl.bioontology.org/ontology/OMIM/MTHU000691 http://purl.bioontology.org/ontology/OMIM/MTHU014340 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU000316 http://purl.bioontology.org/ontology/OMIM/MTHU044877 http://purl.bioontology.org/ontology/OMIM/MTHU004127 http://purl.bioontology.org/ontology/OMIM/MTHU010512 http://purl.bioontology.org/ontology/OMIM/MTHU000389 http://purl.bioontology.org/ontology/OMIM/MTHU000926 http://purl.bioontology.org/ontology/OMIM/MTHU037132 http://purl.bioontology.org/ontology/OMIM/MTHU013555 http://purl.bioontology.org/ontology/OMIM/MTHU000509 http://purl.bioontology.org/ontology/OMIM/MTHU000133 http://purl.bioontology.org/ontology/OMIM/MTHU039361 http://purl.bioontology.org/ontology/OMIM/MTHU037283 http://purl.bioontology.org/ontology/OMIM/MTHU005771 http://purl.bioontology.org/ontology/OMIM/MTHU002502 http://purl.bioontology.org/ontology/OMIM/MTHU033186 http://purl.bioontology.org/ontology/OMIM/MTHU069788 http://purl.bioontology.org/ontology/OMIM/MTHU001056 http://purl.bioontology.org/ontology/OMIM/MTHU063297 http://purl.bioontology.org/ontology/OMIM/MTHU005315 http://purl.bioontology.org/ontology/OMIM/MTHU044875 http://purl.bioontology.org/ontology/OMIM/MTHU041823 See more See less
tui	T047
Gene Locus	8q13.2
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	615636
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C3810212
OMIM Entry Type	3
OMIM MimType Value	pound

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