{
    "disease_id": "DOID:0081022",
    "recommended_name": {
        "id": "DOID:0081022",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081022",
        "name": "cone dystrophy with supernormal rod responses",
        "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": "https://disease-ontology.org/term/DOID:0081022",
            "name": "retinal cone dystrophy 3B",
            "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": "retinal cone dystrophy 3B",
            "description": ""
        },
        {
            "id": "MIM:610356",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610356",
            "name": "Cone dystrophy with supernormal rod responses",
            "description": "Cone dystrophy with supernormal rod responses"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081022"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081022",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081022",
            "categories": []
        },
        {
            "id": "MONDO:0012475",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012475",
            "categories": []
        },
        {
            "id": "MIM:610356",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610356",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1Q6N3-1",
            "uniprot_ac": "F1Q6N3",
            "uniprot_id": "F1Q6N3_DANRE",
            "refseq_ac": "NP_001373570",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Potassium voltage-gated channel subfamily V member 2",
                    "type": "recommended"
                },
                {
                    "name": "Voltage-gated potassium channel subunit Kv8.2",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily V member 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kcnv2a",
                    "type": "recommended"
                },
                {
                    "name": "kcnv2a",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-241o7.4",
                    "type": "synonym"
                }
            ],
            "record_id": "F1Q6N3-1",
            "evidence": [
                {
                    "id": "0081022",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081022"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CFS6-1",
            "uniprot_ac": "Q8CFS6",
            "uniprot_id": "KCNV2_MOUSE",
            "refseq_ac": "NP_899002",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Potassium voltage-gated channel subfamily V member 2",
                    "type": "recommended"
                },
                {
                    "name": "Voltage-gated potassium channel subunit Kv8.2",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily V member 2",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel subunit Kv8.2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kcnv2",
                    "type": "recommended"
                },
                {
                    "name": "KV11.1",
                    "type": "synonym"
                },
                {
                    "name": "Kcnv2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CFS6-1",
            "evidence": [
                {
                    "id": "0081022",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081022"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8TDN2-1",
            "uniprot_ac": "Q8TDN2",
            "uniprot_id": "KCNV2_HUMAN",
            "refseq_ac": "NP_598004",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Potassium voltage-gated channel subfamily V member 2",
                    "type": "recommended"
                },
                {
                    "name": "Voltage-gated potassium channel subunit Kv8.2",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, subfamily V, member 2",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, voltage gated modifier subfamily V, member 2",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily V member 2",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel subunit Kv8.2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KCNV2",
                    "type": "recommended"
                },
                {
                    "name": "CDSRR",
                    "type": "synonym"
                },
                {
                    "name": "KCNV2",
                    "type": "synonym"
                },
                {
                    "name": "KV11.1",
                    "type": "synonym"
                },
                {
                    "name": "Kv8.2",
                    "type": "synonym"
                },
                {
                    "name": "RCD3B",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8TDN2-1",
            "evidence": [
                {
                    "id": "610356",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610356"
                },
                {
                    "id": "0081022",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081022"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZZR6-1",
            "uniprot_ac": "D3ZZR6",
            "uniprot_id": "D3ZZR6_RAT",
            "refseq_ac": "NP_001099840",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Potassium voltage-gated channel subfamily V member 2",
                    "type": "recommended"
                },
                {
                    "name": "Voltage-gated potassium channel subunit Kv8.2",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, subfamily V, member 2",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, voltage-gated modifier subfamily V, member 2",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily V member 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kcnv2",
                    "type": "recommended"
                },
                {
                    "name": "Kcnv2",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZZR6-1",
            "evidence": [
                {
                    "id": "0081022",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081022"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081022"
}