Details of Disease

General Information of Disease (ID: DISK5CXN)

Disease Name Bardet-Biedl syndrome 9
Synonyms BBS9 Bardet-Biedl syndrome; Bardet-Biedl syndrome type 9; BBS9; Bardet-Biedl syndrome caused by mutation in BBS9; Bardet-Biedl syndrome 9
Definition Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS9 gene.
Disease Hierarchy
DIS9TWFO: BBS9-related ciliopathy
DISTBNZW: Bardet biedl syndrome
DISK5CXN: Bardet-Biedl syndrome 9
Disease Identifiers
MONDO ID
MONDO_0014437
UMLS CUI
C1859567
OMIM ID
615986
MedGen ID
347182

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
BBS9 OT23V9YF Definitive Autosomal recessive [1]
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References

1 In search of triallelism in Bardet-Biedl syndrome. Eur J Hum Genet. 2012 Apr;20(4):420-7. doi: 10.1038/ejhg.2011.205. Epub 2012 Feb 22.