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Human Disease

enhanced S-cone syndrome

Term ID
DOID:0090059
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. (2)
References
Ontology
Human Disease   ( DOID:0090059 )
Relationships
is a type of
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Genes Involved
Zebrafish Models