Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/OMIM/612285 http://purl.bioontology.org/ontology/OMIM/612285
Preferred Name	JOUBERT SYNDROME 9
Synonyms	JBTS9 JOUBERT SYNDROME 9/15, DIGENIC
Type	http://www.w3.org/2002/07/owl#Class

altLabel	JBTS9 JOUBERT SYNDROME 9/15, DIGENIC
prefLabel	JOUBERT SYNDROME 9
Gene Symbol	RP93 CC2D2A COACH2 MKS6 KIAA1345
notation	612285
Scope Statement	Caused by mutation in the coiled-coil and C2 domains-containing protein 2A (CC2D2A, 612013.0001) [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/MTHU004637 http://purl.bioontology.org/ontology/OMIM/MTHU001601 http://purl.bioontology.org/ontology/OMIM/MTHU000912 http://purl.bioontology.org/ontology/OMIM/MTHU000322 http://purl.bioontology.org/ontology/OMIM/MTHU031837 http://purl.bioontology.org/ontology/OMIM/MTHU011134 http://purl.bioontology.org/ontology/OMIM/MTHU000235 http://purl.bioontology.org/ontology/OMIM/MTHU000242 See more See less
MIMTYPEMEANING	Phenotype description, molecular basis known.
Gene Locus	4p15.3
tui	T047
cui	C2676788 C3280898

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