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Gucy2D-Related Recessive Retinopathy (MONDO:0100453)

A retinopathy caused by biallelic variants in the GUCY2D gene.

Overview

Category

Ontology ID

Internal:24180

Synonyms

recessive GUCY2D retinopathy

CORD6

CRB

GUCY2D Leber congenital amaurosis

GUCY2D cone-rod dystrophy

LCA

LCA1

Leber congenital amaurosis 1

Leber congenital amaurosis caused by mutation in GUCY2D

Leber congenital amaurosis type 1

RCD2

amaurosis congenita of Leber 1

amaurosis congenita of Leber I

amaurosis congenita of Leber, type 1

cone-rod dystrophy 6

cone-rod dystrophy caused by mutation in GUCY2D

cone-rod dystrophy type 6

night blindness, congenital stationary, type 1I

retinal blindness, congenital

retinal cone dystrophy 2

Mapped terms

GARD:0026227

Child terms