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Summary Literature (0)
DOID:0081022 - retinal cone dystrophy 3B

Disease Ontology Definition:A cone dystrophy that is characterized by onset in the first or second decade of life of very marked photophobia, myopia, reduced color vision along the red-green axis with relatively preserved tritan discrimination, and central scotomata with peripheral widespread sensitivity loss predominating in the superior visual field and that has_material_basis_in homozygous or compound heterozygous mutation in the KCNV2 gene on chromosome 9p24.

Synonyms: cone dystrophy with supernormal rod responses

Xenbase Genes : kcnv2


MIM:
MIM:610356 - RETINAL CONE DYSTROPHY 3B; RCD3B

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), cone dystrophy (is_a)