Details of Disease

General Information of Disease (ID: DIS38PCE)

Disease Name Retinitis pigmentosa 74
Synonyms retinitis pigmentosa 74; BBS2 retinitis pigmentosa; retinitis pigmentosa caused by mutation in BBS2; retinitis pigmentosa type 74; RP74
Definition Any retinitis pigmentosa in which the cause of the disease is a mutation in the BBS2 gene.
Disease Hierarchy
DISCGPY8: Retinitis pigmentosa
DIS38PCE: Retinitis pigmentosa 74
Disease Identifiers
MONDO ID
MONDO_0014692
UMLS CUI
C4225281
OMIM ID
616562
MedGen ID
906896

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
BBS2 OTPF9JIB Definitive Autosomal recessive [1]
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References

1 Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa. JAMA Ophthalmol. 2015 Mar;133(3):312-8. doi: 10.1001/jamaophthalmol.2014.5251.