Details of Disease

General Information of Disease (ID: DISDU7J9)

Disease Name Bardet-Biedl syndrome 12
Synonyms BBS12 Bardet-Biedl syndrome; Bardet-Biedl syndrome type 12; Bardet-Biedl syndrome 12; BBS12; Bardet-Biedl syndrome caused by mutation in BBS12
Definition Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS12 gene.
Disease Hierarchy
DISTBNZW: Bardet biedl syndrome
DISDU7J9: Bardet-Biedl syndrome 12
Disease Identifiers
MONDO ID
MONDO_0014440
UMLS CUI
C1859570
OMIM ID
615989
MedGen ID
347910

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
BBS12 OT43DTAV Definitive Autosomal recessive [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.