Details of Disease | DrugMAP

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.