{
    "disease_id": "DOID:0081022",
    "recommended_name": {
        "id": "DOID:0081022",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0081022",
        "name": "retinal cone dystrophy 3B",
        "description": "A cone dystrophy that is characterized by onset in the first or second decade of life of very marked photophobia, myopia, reduced color vision along the red-green axis with relatively preserved tritan discrimination, and central scotomata with peripheral widespread sensitivity loss predominating in the superior visual field and that has_material_basis_in homozygous or compound heterozygous mutation in the KCNV2 gene on chromosome 9p24."
    },
    "synonyms": [
        {
            "id": "DOID:0081022",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0081022",
            "name": "cone dystrophy with supernormal rod responses",
            "description": ""
        },
        {
            "id": "MONDO:0012475",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012475",
            "name": "cone dystrophy with supernormal rod response",
            "description": "Cone dystrophy with supernormal rod response (CDSRR) is an inherited retinopathy, with an onset in the first or second decade of life, characterized by poor visual acuity (due to central scotoma), photophobia, severe dyschromatopsia, and occasionally, nystagmus. Night blindness usually develops later in the course of the disease, but it can also be apparent from childhood. A hallmark of CDSRR is the decreased and delayed dark-adapted response to dim flashes in electroretinographic recordings, which contrasts with the supernormal b-wave response at the highest levels of stimulation."
        },
        {
            "id": "MONDO:0012475",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012475",
            "name": "cone dystrophy with supernormal rod ERG",
            "description": ""
        },
        {
            "id": "MONDO:0012475",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012475",
            "name": "cone dystrophy with supernormal rod electroretinogram",
            "description": ""
        },
        {
            "id": "MONDO:0012475",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012475",
            "name": "cone dystrophy with supernormal rod response",
            "description": ""
        },
        {
            "id": "MONDO:0012475",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012475",
            "name": "cone dystrophy with supernormal scotopic electroretinogram",
            "description": ""
        },
        {
            "id": "MONDO:0012475",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012475",
            "name": "retinal cone dystrophy type 3B",
            "description": ""
        },
        {
            "id": "MONDO:0012475",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012475",
            "name": "RCD3B",
            "description": ""
        },
        {
            "id": "MONDO:0012475",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012475",
            "name": "cone dystrophy with night blindness and supernormal Rod responses, Kcnv2-related",
            "description": ""
        },
        {
            "id": "MONDO:0012475",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012475",
            "name": "cone dystrophy with night blindness and supernormal rod responses KCNV2 related",
            "description": ""
        },
        {
            "id": "MONDO:0012475",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012475",
            "name": "cone dystrophy with supernormal Rod responses",
            "description": ""
        },
        {
            "id": "MONDO:0012475",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012475",
            "name": "retinal cone dystrophy 3B",
            "description": ""
        },
        {
            "id": "MIM:610356",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610356",
            "name": "Cone dystrophy retinal 3B",
            "description": "Cone dystrophy retinal 3B"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081022"
    ],
    "unlinked_id_list": []
}