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congenital stationary night blindness autosomal dominant 3

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description A congenital stationary night blindness characterized by autosomal dominant inheritance that has material basis in heterozygous mutation in the GNAT1 gene on chromosome 3p21.
Uniprot Description A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia.
Mondo Term and Equivalent IDs
MONDO:0012497:  congenital stationary night blindness autosomal dominant 3
MESH:C566475: 
UMLS:C1864870: