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GUCY2D-related recessive retinopathy

^ http://purl.obolibrary.org/obo/MONDO_0100453

A retinopathy caused by biallelic variants in the GUCY2D gene. [ https://clinicalgenome.org/affiliation/40072/ ]

Term info

abbreviation
LCA1 [ DOID:0110078 OMIM:204000 https://clinicalgenome.org/affiliation/40072/ MONDO:Lexical ]

abbreviation
CORD6 [ OMIM:601777 MONDO:Lexical https://clinicalgenome.org/affiliation/40072/ DOID:0111011 ]

abbreviation
RCD2 [ OMIM:601777 https://clinicalgenome.org/affiliation/40072/ DOID:0111011 OMIM:601251 ]

created by

https://orcid.org/0000-0001-5208-3432

definition

A retinopathy caused by biallelic variants in the GUCY2D gene.

has exact synonym

recessive GUCY2D retinopathy

has narrow synonym

amaurosis congenita of Leber, type 1, Leber congenital amaurosis caused by mutation in GUCY2D, night blindness, congenital stationary, type 1I, cone-rod dystrophy caused by mutation in GUCY2D, LCA1, Leber congenital amaurosis 1, retinal blindness, congenital, cone-rod dystrophy type 6, Leber congenital amaurosis type 1, retinal cone dystrophy 2, amaurosis congenita of Leber 1, GUCY2D cone-rod dystrophy, LCA, CORD6, cone-rod dystrophy 6, GUCY2D Leber congenital amaurosis, amaurosis congenita of Leber I, CRB, RCD2

id

MONDO:0100453

Term relations