Details of Disease | DrugMAP

General Information of Disease (ID: DISBSPIN)

Disease Name	Joubert syndrome 25
Synonyms	Joubert syndrome 25; JBTS25; Joubert syndrome type 25; CEP104 Joubert syndrome; Joubert syndrome caused by mutation in CEP104
Definition	Any Joubert syndrome in which the cause of the disease is a mutation in the CEP104 gene.
Disease Hierarchy	DIS7P5CO: Joubert syndrome DISBSPIN: Joubert syndrome 25
Disease Identifiers	MONDO ID MONDO_0014770 UMLS CUI C4084842 OMIM ID 616781 MedGen ID 895764

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
CEP104	OTOLRJLH	Strong	Autosomal recessive	[1]
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References

1	Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. Am J Hum Genet. 2015 Nov 5;97(5):744-53. doi: 10.1016/j.ajhg.2015.09.009. Epub 2015 Oct 17.