RPE65-related recessive retinopathy
A retinopathy, which may include conditions described as retinitis pigmentosa and Leber congenital amaurosis, caused by biallelic variants in the RPE65 gene.
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0019118
inherited retinal dystrophy
is_a
LCA2
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Leber congenital amaurosis 2
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Leber congenital amaurosis caused by mutation in RPE65
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Leber congenital amaurosis type 2
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RP20
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RPE65 Leber congenital amaurosis
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RPE65 retinitis pigmentosa
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RPE65-related recessive retinopathy
exact
amaurosis congenita of Leber 2
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amaurosis congenita of Leber II
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amaurosis congenita of Leber, type 2
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recessive RPE65 retinopathy
exact
retinitis pigmentosa 20
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retinitis pigmentosa caused by mutation in RPE65
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