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Summary Literature (0)
DOID:0050534 - congenital stationary night blindness


Disease Ontology Definition:A hereditary night blindness that is characterized by hemeralopia with a moderate loss of visual acuity and caused by defective photoreceptor-to-bipolar cell signaling with common ERG findings of reduced or absent b-waves and generally normal a-waves.

Synonyms: congenital essential nyctalopia,

Xenbase Genes : trpm1, grm6, nyx, gnb3, pde6b, rho, slc24a1, gpr179, gnat1, cacna1f, cabp4, lrit3, rho.2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0016293 - congenital stationary night blindness


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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): hereditary night blindness (is_a), night blindness (is_a), physical disorder (is_a)