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Summary Literature (0)
DOID:0110868 - congenital stationary night blindness 1D


Disease Ontology Definition:A congenital stationary night blindness characterized by a Riggs type of electroretinogram (proportionally reduced a- and b-waves) that has_material_basis_in homozygous or compound heterozygous mutation in the SLC24A1 gene on chromosome 15q22.

Synonyms: congenital stationary night blindness 1D autosomal recessive, CSNB1D

Xenbase Genes : slc24a1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0013450 - congenital stationary night blindness 1D

MIM:
MIM:613830 - NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D; CSNB1D

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), congenital stationary night blindness (is_a)