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DO Term : enhanced S-cone syndrome [DOID:0090059] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • MESH:C564835,
  • 268100,
  • OMIM:268100
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents