Details of Disease | DrugMAP

General Information of Disease (ID: DISAICYU)

Disease Name	Bardet-Biedl syndrome 8
Synonyms	Bardet-Biedl syndrome caused by mutation in TTC8; Bardet-Biedl syndrome type 8; Bardet-Biedl syndrome 8; BBS8; TTC8 Bardet-Biedl syndrome
Definition	Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TTC8 gene.
Disease Hierarchy	DISTBNZW: Bardet biedl syndrome DISAICYU: Bardet-Biedl syndrome 8
Disease Identifiers	MONDO ID MONDO_0014436 UMLS CUI C1859566 OMIM ID 615985 MedGen ID 347181

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
TTC8	OTBGDZBD	Definitive	Autosomal recessive	[1]
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References

1	Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.