Term Name: | enhanced S-cone syndrome |
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Synonyms: | |
Definition: | A retinal disease that is characterized by early onset night blindness, hypersensitivity to blue light, and in some cases a more general retinal degeneration that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear receptor subfamily 2 group E member 3 gene (NR2E3) on chromosome 15q23. |
Ontology: | Human Disease [DOID:0090059] ( DOID:0090059 ) |