{
    "disease_id": "DOID:0061231",
    "recommended_name": {
        "id": "DOID:0061231",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061231",
        "name": "enhanced S-cone syndrome 1",
        "description": "A retinal disease that is characterized by increased sensitivity to blue light; perception of blue light is mediated by what is normally the least populous cone photoreceptor subtype, the S (short wavelength, blue) cones and suffer visual loss, with night blindness occurring from early in life, varying degrees of L (long, red)- and M (middle, green)-cone vision, and retinal degeneration that has_material_basis_in homozygous or compound heterozygous mutation in the nuclear receptor gene NR2E3 on chromosome 15q23."
    },
    "synonyms": [
        {
            "id": "MONDO:0100289",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100289",
            "name": "Goldmann-Favre syndrome",
            "description": "A vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis)."
        },
        {
            "id": "MONDO:0100289",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100289",
            "name": "enhanced S-cone syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0100289",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100289",
            "name": "retinoschisis with early nyctalopia",
            "description": ""
        },
        {
            "id": "MIM:268100",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/268100",
            "name": "Enhanced S cone syndrome",
            "description": "Enhanced S cone syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061231"
    ],
    "unlinked_id_list": []
}