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Metadata
DOID DOID:0090059
Name enhanced S-cone syndrome
Definition A retinal disease characterized by autosomal recessive inheritance of early onset night blindness, hypersensitivity to blue light, and in some cases a more general retinal degeneration that has_material_basis_in homozygous or compound heterozygous mutation in the NR2E3 gene on chromosome 15q23.
Xrefs

MESH:C564835

OMIM:268100

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is_a retinal disease

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