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congenital stationary night blindness 1C

Disease Summary
Associated Targets (1)
Tchem

1


Mondo Description Any congenital stationary night blindness in which the cause of the disease is a mutation in the TRPM1 gene.
Uniprot Description A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia.
Mondo Term and Equivalent IDs
MONDO:0013183:  congenital stationary night blindness 1C
MESH:C567704: 
UMLS:C2750747: