Details of Disease | DrugMAP

General Information of Disease (ID: DIS8PDVU)

Disease Name	Joubert syndrome 2
Synonyms	Cerebellooculorenal syndrome 2; TMEM216 Joubert syndrome; Joubert syndrome caused by mutation in TMEM216; Joubert syndrome type 2; CORS2; cerebellooculorenal syndrome 2; Joubert syndrome 2; JBTS2
Definition	Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM216 gene.
Disease Hierarchy	DIS7P5CO: Joubert syndrome DISU0IPO: Joubert syndrome with oculorenal defect DIS8PDVU: Joubert syndrome 2
Disease Identifiers	MONDO ID MONDO_0011963 MESH ID C536294 UMLS CUI C1842577 OMIM ID 608091 MedGen ID 334114

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TMEM216	OT1LOKOI	Strong	Autosomal recessive	[1]
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References

1	Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nat Genet. 2010 Jul;42(7):619-25. doi: 10.1038/ng.594. Epub 2010 May 30.