ZFIN Human Disease: Oguchi disease-1

OBO ID: DOID:0110712

Term Name:	Oguchi disease-1		Search Ontology:
Synonyms:	congenital stationary night blindness Oguchi type 1 CSNBO1
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. (2)
References:	OMIM:258100
Ontology:	Human Disease ( DOID:0110712 )

Relationships

is a type of:	autosomal recessive disease congenital stationary night blindness autosomal recessive disease congenital stationary night blindness Show first 5 Terms
disjoint_from:	Oguchi disease-2 Oguchi disease-2 Show first 5 Terms

OTHER Oguchi disease-1 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
SAG	sagb	Oguchi disease-1	258100

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None