Details of Disease

General Information of Disease (ID: DISPXEJ4)

Disease Name Bardet-Biedl syndrome 5
Synonyms BBS5 Bardet-Biedl syndrome; Bardet-Biedl syndrome 5; Bardet-Biedl syndrome caused by mutation in BBS5; Bardet-Biedl syndrome type 5; BBS5
Definition Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS5 gene.
Disease Hierarchy
DISTBNZW: Bardet biedl syndrome
DISPXEJ4: Bardet-Biedl syndrome 5
Disease Identifiers
MONDO ID
MONDO_0014434
UMLS CUI
C3892039
OMIM ID
615983
MedGen ID
856141

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MYO3B OTVD4TNG Strong Genetic Variation [1]
BBS5 OTFWF9N1 Definitive Autosomal recessive [2]
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References

1 A class III myosin expressed in the retina is a potential candidate for Bardet-Biedl syndrome.Genomics. 2002 May;79(5):621-4. doi: 10.1006/geno.2002.6749.
2 Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene. Cell. 2004 May 14;117(4):541-52. doi: 10.1016/s0092-8674(04)00450-7.