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Metadata
ID	DOID:0110713
Name	Oguchi disease-2
Definition	A congenital stationary night blindness characterized by congenital static night blindness, a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and typically normal function of all other visual functions that has_material_basis_in homozygous mutation in the GRK1 gene on chromosome 13q34. https://www.ncbi.nlm.nih.gov/pubmed/7670478, https://www.ncbi.nlm.nih.gov/pubmed/9020843
Xrefs	OMIM:613411
Synonyms	congenital stationary night blindness Oguchi type 2 [EXACT] CSNBO2 [EXACT]
Parent Relationships	is_a autosomal recessive disease is_a congenital stationary night blindness