Details of Disease | DrugMAP

General Information of Disease (ID: DISI2YY4)

Disease Name	Bardet-Biedl syndrome 18
Synonyms	BBIP1 Bardet-Biedl syndrome; Bardet-Biedl syndrome 18; Bardet-Biedl syndrome caused by mutation in BBIP1; Bardet-Biedl syndrome type 18; BBS18
Definition	Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBIP1 gene.
Disease Hierarchy	DISTBNZW: Bardet biedl syndrome DISI2YY4: Bardet-Biedl syndrome 18
Disease Identifiers	MONDO ID MONDO_0014446 UMLS CUI C3806174 OMIM ID 615995 MedGen ID 812504

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
BBIP1	OTGMET92	Strong	Autosomal recessive	[1]
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References

1	Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18). J Med Genet. 2014 Feb;51(2):132-6. doi: 10.1136/jmedgenet-2013-101785. Epub 2013 Sep 11.