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congenital stationary night blindness 1E

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any congenital stationary night blindness in which the cause of the disease is a mutation in the GPR179 gene.
Uniprot Description An autosomal recessive, non-progressive retinal disorder characterized by impaired night vision, absence of the electroretinogram (ERG) b-wave, and variable degrees of involvement of other visual functions. Affected individuals have an ERG waveform that lacks the b-wave because of failure to transmit the photoreceptor signal through the retinal depolarizing bipolar cells.
Mondo Term and Equivalent IDs
MONDO:0013807:  congenital stationary night blindness 1E
UMLS:C3281215: