Details of Disease

General Information of Disease (ID: DISVQWJO)

Disease Name Retinitis pigmentosa 75
Synonyms AGBL5 retinitis pigmentosa; RP75; retinitis pigmentosa type 75; retinitis pigmentosa 75; retinitis pigmentosa caused by mutation in AGBL5
Definition Any retinitis pigmentosa in which the cause of the disease is a mutation in the AGBL5 gene.
Disease Hierarchy
DISCGPY8: Retinitis pigmentosa
DISVQWJO: Retinitis pigmentosa 75
Disease Identifiers
MONDO ID
MONDO_0014871
UMLS CUI
C4310759
OMIM ID
617023
MedGen ID
934726

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
AGBL5 OTMLXQZ4 Strong Genetic Variation [1]
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References

1 Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies.Genet Med. 2016 Jun;18(6):554-62. doi: 10.1038/gim.2015.127. Epub 2015 Sep 10.