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retinitis pigmentosa 27

Disease Summary
Associated Targets (1)


Mondo Description Any retinitis pigmentosa in which the cause of the disease is a mutation in the NRL gene.
Uniprot Description A retinopathy characterized by night blindness since early childhood, consistent with a severe reduction in rod function. Color vision is normal although there is a relatively enhanced function of short-wavelength-sensitive cones in the macula. Signs of retinal degeneration and clusters of clumped pigment deposits in the peripheral fundus at the level of the retinal pigment epithelium are present.
Mondo Term and Equivalent IDs
MONDO:0013402:  retinitis pigmentosa 27