Details of Disease

General Information of Disease (ID: DISOZ4CR)

Disease Name Retinitis pigmentosa 27
Synonyms retinal Degeneration, autosomal recessive, Clumped pigment type; retinitis pigmentosa caused by mutation in NRL; RP27; NRL retinitis pigmentosa; retinitis pigmentosa 27; retinitis pigmentosa type 27
Definition Any retinitis pigmentosa in which the cause of the disease is a mutation in the NRL gene.
Disease Hierarchy
DISCGPY8: Retinitis pigmentosa
DISOZ4CR: Retinitis pigmentosa 27
Disease Identifiers
MONDO ID
MONDO_0013402
UMLS CUI
C1834329
OMIM ID
613750
MedGen ID
320323

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
NRL OT65MFKQ Definitive Autosomal dominant [1]
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References

1 Identification of a novel NRL mutation in a Chinese family with retinitis pigmentosa by whole-exome sequencing. Eye (Lond). 2017 May;31(5):815-817. doi: 10.1038/eye.2016.327. Epub 2017 Jan 20.