Details of Disease | DrugMAP

General Information of Disease (ID: DISMRTBS)

Disease Name	Joubert syndrome 7
Synonyms	JBTS7; Joubert syndrome caused by mutation in RPGRIP1L; RPGRIP1L Joubert syndrome; Joubert syndrome 7; Joubert syndrome type 7
Definition	Any Joubert syndrome in which the cause of the disease is a mutation in the RPGRIP1L gene.
Disease Hierarchy	DIS7P5CO: Joubert syndrome DISMRTBS: Joubert syndrome 7
Disease Identifiers	MONDO ID MONDO_0012694 UMLS CUI C1969053 OMIM ID 611560 MedGen ID 369401

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
RPGRIP1L	OT6Z069I	Strong	Autosomal recessive	[1]
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References

1	The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nat Genet. 2007 Jul;39(7):875-81. doi: 10.1038/ng2039. Epub 2007 Jun 10.