Details of Disease

General Information of Disease (ID: DISLN372)

Disease Name Bardet-Biedl syndrome 3
Synonyms BBS3; Bardet-Biedl syndrome type 3; Bardet-Biedl syndrome 3
Disease Hierarchy
DISTBNZW: Bardet biedl syndrome
DISLN372: Bardet-Biedl syndrome 3
Disease Identifiers
MONDO ID
MONDO_0010832
MESH ID
C537911
UMLS CUI
C1859564
OMIM ID
600151
MedGen ID
347179

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
MCHR1 TTX4RTB Strong Biomarker [1]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
BBS2 OTPF9JIB Strong Biomarker [2]
ARL6 OTLV3SBS Definitive Autosomal recessive [2]
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References

1 Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes.Proc Natl Acad Sci U S A. 2011 Dec 20;108(51):20678-83. doi: 10.1073/pnas.1113220108. Epub 2011 Dec 2.
2 Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3). Am J Hum Genet. 2004 Sep;75(3):475-84. doi: 10.1086/423903. Epub 2004 Jul 16.