ZFIN Human Disease: enhanced S-cone syndrome

OBO ID: DOID:0090059

Term Name:	enhanced S-cone syndrome		Search Ontology:
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:	MESH:C564835 OMIM:268100
Ontology:	Human Disease ( DOID:0090059 )

Relationships

is a type of:	autosomal recessive disease retinal disease autosomal recessive disease retinal disease Show first 5 Terms

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
NR2E3	nr2e3	Enhanced S-cone syndrome	268100

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS (1)