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congenital stationary night blindness 1G

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description A congenital stationary night blindness characterized by autosomal recessive inheritance that has material basis in homozygous mutation in the GNAT1 gene on chromosome 3p21.
Uniprot Description An autosomal recessive form of congenital stationary night blindness, a non-progressive retinal disorder characterized by impaired night vision or in dim light, with good vision only on bright days.
Mondo Term and Equivalent IDs
MONDO:0014614:  congenital stationary night blindness 1G
UMLS:C4225345: