General Information of Disease (ID: DIS7U0YK)

Disease Name Bardet-Biedl syndrome 6
Synonyms Bardet-Biedl syndrome 6; BBS6; Bardet-Biedl syndrome type 6
Disease Hierarchy
DISTBNZW: Bardet biedl syndrome
DIS7U0YK: Bardet-Biedl syndrome 6
Disease Identifiers
MONDO ID
MONDO_0011523
UMLS CUI
C1858054
OMIM ID
605231
MedGen ID
347610

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
MKKS OTLF5T11 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.