Details of Disease

General Information of Disease (ID: DISYCSFY)

Disease Name Retinitis pigmentosa 33
Synonyms RP 33; retinitis pigmentosa caused by mutation in SNRNP200; RP33; retinitis pigmentosa type 33; SNRNP200 retinitis pigmentosa; retinitis pigmentosa 33
Definition Any retinitis pigmentosa in which the cause of the disease is a mutation in the SNRNP200 gene.
Disease Hierarchy
DISW3PXJ: SNRNP200-related dominant retinopathy
DISCGPY8: Retinitis pigmentosa
DISYCSFY: Retinitis pigmentosa 33
Disease Identifiers
MONDO ID
MONDO_0012477
MESH ID
C563676
UMLS CUI
C1835895
OMIM ID
610359
MedGen ID
332080

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
SNRNP200 OTSAU864 Definitive Autosomal dominant [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.