Details of Disease | DrugMAP

General Information of Disease (ID: DISVD0RT)

Disease Name	Bardet-Biedl syndrome 16
Synonyms	Bardet-Biedl syndrome type 16; Bardet-Biedl syndrome caused by mutation in SDCCAG8; SDCCAG8 Bardet-Biedl syndrome; BBS16; Bardet-Biedl syndrome 16
Definition	Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene.
Disease Hierarchy	DISTBNZW: Bardet biedl syndrome DISVD0RT: Bardet-Biedl syndrome 16
Disease Identifiers	MONDO ID MONDO_0014444 UMLS CUI C3889474 OMIM ID 615993 MedGen ID 855172

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
SDCCAG8	OTV2ZGV9	Strong	Autosomal recessive	[1]
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References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.