Details of Disease

General Information of Disease (ID: DISQN9KL)

Disease Name Retinitis pigmentosa 81
Synonyms RP81; retinitis pigmentosa 81
Disease Hierarchy
DISCGPY8: Retinitis pigmentosa
DISQN9KL: Retinitis pigmentosa 81
Disease Identifiers
MONDO ID
MONDO_0036482
UMLS CUI
C4693443
OMIM ID
617871
MedGen ID
1637738

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
IFT43 OTKWYQ5C Limited Unknown [1]
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References

1 A mutation in IFT43 causes non-syndromic recessive retinal degeneration. Hum Mol Genet. 2017 Dec 1;26(23):4741-4751. doi: 10.1093/hmg/ddx356.