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Metadata
ID	DOID:0110712
Name	Oguchi disease-1
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 or compound heterozygous mutation in the SAG gene on chromosome 2q37. https://www.ncbi.nlm.nih.gov/pubmed/15234147, https://www.ncbi.nlm.nih.gov/pubmed/7670478
Xrefs	OMIM:258100
Synonyms	congenital stationary night blindness Oguchi type 1 [EXACT] CSNBO1 [EXACT]
Parent Relationships	is_a autosomal recessive disease is_a congenital stationary night blindness