Details of Disease

General Information of Disease (ID: DISNFMES)

Disease Name Retinitis pigmentosa 23
Synonyms RP 23; RP23; retinitis pigmentosa caused by mutation in OFD1; retinitis pigmentosa type 23; retinitis pigmentosa 23, X-linked recessive; OFD1 retinitis pigmentosa; retinitis pigmentosa 23
Definition Any retinitis pigmentosa in which the cause of the disease is a mutation in the OFD1 gene.
Disease Hierarchy
DISCGPY8: Retinitis pigmentosa
DISNFMES: Retinitis pigmentosa 23
Disease Identifiers
MONDO ID
MONDO_0010320
UMLS CUI
C1419610
OMIM ID
300424
MedGen ID
238456

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
RS1 TTT2CZY Definitive Genetic Variation [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
OFD1 OTAZW5TK Strong X-linked [2]
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References

1 Evidence for a new locus for X-linked retinitis pigmentosa (RP23). Invest Ophthalmol Vis Sci. 2000 Jul;41(8):2080-6.
2 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.