enhanced S-cone syndrome 2 Disease Ontology Browser

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Disease Ontology Browser

enhanced S-cone syndrome 2 (DOID:0061232)
Alliance: disease page
Alt IDs: OMIM:621371
Definition: A retinal disease that is characterized by an increased number of cones in the retina, primarily those expressing S-cone opsins that has_material_basis_in compound heterozygous and homozygous mutation in the NRL gene on chromosome 14q11.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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