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| Term | enhanced S-cone syndrome | ID (Ontology) | DOID:0090059 (Human Disease) |
| 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. | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal recessive disease__ eye disease | |__retinal disease______________| enhanced S-cone syndrome 1 rec. |
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| Is a |
autosomal recessive disease retinal disease |
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External Crossreferences & Linkouts
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MESH:C564835 MIM:268100 |
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