Details of Disease

General Information of Disease (ID: DISR25W6)

Disease Name Retinitis pigmentosa 40
Synonyms retinitis pigmentosa caused by mutation in PDE6B; PDE6B retinitis pigmentosa; retinitis pigmentosa type 40; retinitis pigmentosa-40; retinitis pigmentosa 40; RP40
Definition Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6B gene.
Disease Hierarchy
DISCGPY8: Retinitis pigmentosa
DISR25W6: Retinitis pigmentosa 40
Disease Identifiers
MONDO ID
MONDO_0013429
UMLS CUI
C3151107
OMIM ID
613801
MedGen ID
462457

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
PDE6B OTOJMB1V Definitive Autosomal recessive [1]
------------------------------------------------------------------------------------

References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.