Details of Disease | DrugMAP

General Information of Disease (ID: DISN3X6H)

Disease Name	Bardet-Biedl syndrome 7
Synonyms	Bardet-Biedl syndrome type 7; Bardet-Biedl syndrome caused by mutation in BBS7; Bardet-Biedl syndrome 7; BBS7 Bardet-Biedl syndrome; BBS7
Definition	Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS7 gene.
Disease Hierarchy	DISTBNZW: Bardet biedl syndrome DISN3X6H: Bardet-Biedl syndrome 7
Disease Identifiers	MONDO ID MONDO_0014435 UMLS CUI C1859565 OMIM ID 615984 MedGen ID 347180

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
BBS7	OTELYWDQ	Definitive	Autosomal recessive	[1]
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References

1	Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. Am J Hum Genet. 2003 Mar;72(3):650-8. doi: 10.1086/368204. Epub 2003 Feb 3.