Details of Disease

General Information of Disease (ID: DISSZ8FS)

Disease Name Bardet-biedl syndrome 21
Synonyms BBS21; Bardet-Biedl syndrome 21
Definition
BBS21 is an autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment ({1:Heon et al., 2016}; {2:Khan et al., 2016}).nnFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM:209900).
Disease Hierarchy
DISTBNZW: Bardet biedl syndrome
DISSZ8FS: Bardet-biedl syndrome 21
Disease Identifiers
MONDO ID
MONDO_0044308
UMLS CUI
C4319932
OMIM ID
617406
MedGen ID
1374358

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
CFAP418 OT0F9NFP Limited Autosomal recessive [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.