About: enhanced S-cone syndrome

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About: enhanced S-cone syndrome Goto Sponge Distinct Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

Attributes	Values
type	Class
subClassOf	autosomal recessive disease retinal disease nodeID://b50942182
label	enhanced S-cone syndrome
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0090059
database_cross_reference	MESH:C564835 OMIM:268100
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	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.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50942183

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