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RPE65-related recessive retinopathy

^ http://purl.obolibrary.org/obo/MONDO_0100368

A retinopathy, which may include conditions described as retinitis pigmentosa and Leber congenital amaurosis, caused by biallelic variants in the RPE65 gene. [ https://clinicalgenome.org/affiliation/40072/ ]

Term info

abbreviation
LCA2 [ DOID:0110016 https://clinicalgenome.org/affiliation/40072/ OMIM:204100 MONDO:Lexical ]

abbreviation
RP20 [ DOID:0110353 https://clinicalgenome.org/affiliation/40072/ MONDO:Lexical OMIM:613794 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/3898

definition

A retinopathy, which may include conditions described as retinitis pigmentosa and Leber congenital amaurosis, caused by biallelic variants in the RPE65 gene.

has exact synonym

recessive RPE65 retinopathy

has narrow synonym

amaurosis congenita of Leber, type 2, retinitis pigmentosa caused by mutation in RPE65, RPE65 retinitis pigmentosa, Leber congenital amaurosis type 2, Leber congenital amaurosis caused by mutation in RPE65, amaurosis congenita of Leber II, amaurosis congenita of Leber 2, RP20, LCA2, Leber congenital amaurosis 2, retinitis pigmentosa 20, RPE65 Leber congenital amaurosis

id

MONDO:0100368