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Rpe65-Related Recessive Retinopathy (MONDO:0100368)

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

Overview

Category

disorder of orbital region

nervous system disorder

disorder of visual system

Ontology ID

MONDO:0100368

Internal:24096

Synonyms

RPE65-related recessive retinopathy

recessive RPE65 retinopathy

LCA2

Leber congenital amaurosis 2

Leber congenital amaurosis caused by mutation in RPE65

Leber congenital amaurosis type 2

RP20

RPE65 Leber congenital amaurosis

RPE65 retinitis pigmentosa

amaurosis congenita of Leber 2

amaurosis congenita of Leber II

amaurosis congenita of Leber, type 2

retinitis pigmentosa 20

retinitis pigmentosa caused by mutation in RPE65

Mapped terms

GARD:0026155

Child terms

MONDO:0008765

MONDO:0013425

Results

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