Term Name: enhanced S-cone syndrome
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 )

Relationships
is a type of: autosomal recessive disease retinal disease