GUCY2D-related dominant retinopathy
A retinopathy caused by a heterozygous gain of function or dominant-negative variant or in the GUCY2D gene.
MONDO:0000426
autosomal dominant disease
is_a
MONDO:0100454
GUCY2D retinopathy
is_a
CACD1
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CORD6
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GUCY2D central areolar choroidal dystrophy
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GUCY2D cone-rod dystrophy
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RCD2
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central areolar choroidal dystrophy caused by mutation in GUCY2D
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choroidal dystrophy, central areolar
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choroidal dystrophy, central areolar, 1
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choroidal sclerosis
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cone-rod dystrophy 6
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cone-rod dystrophy caused by mutation in GUCY2D
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cone-rod dystrophy type 6
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dominant GUCY2D retinopathy
exact
retinal cone dystrophy 2
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