Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/608091
http://purl.bioontology.org/ontology/OMIM/608091
Preferred Name

JOUBERT SYNDROME 2
Synonyms
CORS2
CEREBELLOOCULORENAL SYNDROME 2
JBTS2
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
CORS2
CEREBELLOOCULORENAL SYNDROME 2
JBTS2
prefLabel
JOUBERT SYNDROME 2
Gene Symbol
TMEM216
MKS2
RP98
CORS2
JBTS2
Scope Statement
Genetic heterogeneity [MISCELLANEOUS]
Variable phenotype [MISCELLANEOUS]
Caused by mutation in the transmembrane protein 216 gene (TMEM216, 613277.0001) [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU042880
http://purl.bioontology.org/ontology/OMIM/MTHU000629
http://purl.bioontology.org/ontology/OMIM/MTHU003093
http://purl.bioontology.org/ontology/OMIM/MTHU036519
http://purl.bioontology.org/ontology/OMIM/MTHU001998
http://purl.bioontology.org/ontology/OMIM/MTHU002514
http://purl.bioontology.org/ontology/OMIM/MTHU000263
http://purl.bioontology.org/ontology/OMIM/MTHU000691
http://purl.bioontology.org/ontology/OMIM/MTHU041788
http://purl.bioontology.org/ontology/OMIM/MTHU002509
http://purl.bioontology.org/ontology/OMIM/MTHU036341
http://purl.bioontology.org/ontology/OMIM/MTHU000197
http://purl.bioontology.org/ontology/OMIM/MTHU002510
http://purl.bioontology.org/ontology/OMIM/MTHU001061
http://purl.bioontology.org/ontology/OMIM/MTHU002499
http://purl.bioontology.org/ontology/OMIM/MTHU002503
http://purl.bioontology.org/ontology/OMIM/MTHU000512
http://purl.bioontology.org/ontology/OMIM/MTHU002504
http://purl.bioontology.org/ontology/OMIM/MTHU036357
http://purl.bioontology.org/ontology/OMIM/MTHU002153
http://purl.bioontology.org/ontology/OMIM/MTHU002512
http://purl.bioontology.org/ontology/OMIM/MTHU036342
http://purl.bioontology.org/ontology/OMIM/MTHU000621
http://purl.bioontology.org/ontology/OMIM/MTHU002501
http://purl.bioontology.org/ontology/OMIM/MTHU002513
http://purl.bioontology.org/ontology/OMIM/MTHU042881
http://purl.bioontology.org/ontology/OMIM/MTHU002506
http://purl.bioontology.org/ontology/OMIM/MTHU041789
http://purl.bioontology.org/ontology/OMIM/MTHU000133
http://purl.bioontology.org/ontology/OMIM/MTHU041786
http://purl.bioontology.org/ontology/OMIM/MTHU025905
http://purl.bioontology.org/ontology/OMIM/MTHU001994
http://purl.bioontology.org/ontology/OMIM/MTHU002500
http://purl.bioontology.org/ontology/OMIM/MTHU001776
http://purl.bioontology.org/ontology/OMIM/MTHU041787
http://purl.bioontology.org/ontology/OMIM/MTHU000081
http://purl.bioontology.org/ontology/OMIM/MTHU002502
http://purl.bioontology.org/ontology/OMIM/MTHU036349
http://purl.bioontology.org/ontology/OMIM/MTHU002507
http://purl.bioontology.org/ontology/OMIM/MTHU000235
http://purl.bioontology.org/ontology/OMIM/MTHU001995
http://purl.bioontology.org/ontology/OMIM/MTHU002511
http://purl.bioontology.org/ontology/OMIM/MTHU002505
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tui
T047
Gene Locus
11q12.2
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
608091
Semantic type UMLS property
Has inheritance type
cui
C1842577
OMIM Entry Type
3
OMIM MimType Value
pound
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