CEP290-related ciliopathy
A ciliopathy caused by biallelic variants in the CEP290 gene.
MONDO:0005308
ciliopathy
is_a
BBS14
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Bardet-Biedl syndrome 14
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Bardet-Biedl syndrome type 14
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CEP290 Joubert syndrome
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CEP290 Leber congenital amaurosis
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CEP290 Meckel syndrome
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CEP290 Senior-Loken syndrome
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CEP290 ciliopathy
exact
JBTS5
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Joubert syndrome 5
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Joubert syndrome caused by mutation in CEP290
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Joubert syndrome type 5
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LCA10
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Leber congenital amaurosis 10
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Leber congenital amaurosis caused by mutation in CEP290
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Leber congenital amaurosis type 10
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MKS4
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Meckel syndrome 4
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Meckel syndrome caused by mutation in CEP290
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Meckel syndrome, type 4
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Meckel-Gruber syndrome, type 4
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Meckel-like Cerebrorenodigital syndrome
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SENIOR-Loken syndrome 6
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SLSN6
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Senior-Loken syndrome 6
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Senior-Loken syndrome caused by mutation in CEP290
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Senior-Loken syndrome type 6
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amaurosis congenita of Leber, type 10
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