{
    "disease_id": "DOID:0081023",
    "recommended_name": {
        "id": "DOID:0081023",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081023",
        "name": "retinal cone dystrophy 4",
        "description": "A cone dystrophy that has_material_basis_in homozygous mutation in the CACNA2D4 gene on chromosome 12p13."
    },
    "synonyms": [
        {
            "id": "MONDO:0012507",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012507",
            "name": "retinal cone dystrophy 4",
            "description": "Any cone dystrophy in which the cause of the disease is a mutation in the CACNA2D4 gene."
        },
        {
            "id": "MONDO:0012507",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012507",
            "name": "CACNA2D4 cone dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0012507",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012507",
            "name": "cone dystrophy caused by mutation in CACNA2D4",
            "description": ""
        },
        {
            "id": "MONDO:0012507",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012507",
            "name": "retinal cone dystrophy 4",
            "description": ""
        },
        {
            "id": "MONDO:0012507",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012507",
            "name": "retinal cone dystrophy type 4",
            "description": ""
        },
        {
            "id": "MONDO:0012507",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012507",
            "name": "RCD4",
            "description": ""
        },
        {
            "id": "MIM:610478",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610478",
            "name": "Retinal cone dystrophy 4",
            "description": "Retinal cone dystrophy 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081023"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081023",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081023",
            "categories": []
        },
        {
            "id": "MONDO:0012507",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012507",
            "categories": []
        },
        {
            "id": "MIM:610478",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610478",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q5RJF7-1",
            "uniprot_ac": "Q5RJF7",
            "uniprot_id": "CA2D4_MOUSE",
            "refseq_ac": "NP_001028554",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Voltage-dependent calcium channel subunit alpha-2/delta-4",
                    "type": "recommended"
                },
                {
                    "name": "Voltage-gated calcium channel subunit alpha-2/delta-4",
                    "type": "synonym"
                },
                {
                    "name": "voltage-dependent calcium channel subunit alpha-2/delta-4 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "voltage-dependent calcium channel subunit alpha-2/delta-4",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated calcium channel subunit alpha-2/delta-4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cacna2d4",
                    "type": "recommended"
                },
                {
                    "name": "5730412N02Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cacna2d4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5RJF7-1",
            "evidence": [
                {
                    "id": "0081023",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081023"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7Z3S7-1",
            "uniprot_ac": "Q7Z3S7",
            "uniprot_id": "CA2D4_HUMAN",
            "refseq_ac": "NP_758952",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Voltage-dependent calcium channel subunit alpha-2/delta-4",
                    "type": "recommended"
                },
                {
                    "name": "Voltage-gated calcium channel subunit alpha-2/delta-4",
                    "type": "synonym"
                },
                {
                    "name": "alpha2delta-4",
                    "type": "synonym"
                },
                {
                    "name": "calcium channel, voltage-dependent, alpha 2/delta subunit 4",
                    "type": "synonym"
                },
                {
                    "name": "voltage-dependent calcium channel subunit alpha-2/delta-4",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated calcium channel alpha(2)delta-4 subunit",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated calcium channel subunit alpha-2/delta-4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CACNA2D4",
                    "type": "recommended"
                },
                {
                    "name": "CACNA2D4",
                    "type": "synonym"
                },
                {
                    "name": "RCD4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7Z3S7-1",
            "evidence": [
                {
                    "id": "610478",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610478"
                },
                {
                    "id": "0081023",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081023"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LNP5-1",
            "uniprot_ac": "A0ABK0LNP5",
            "uniprot_id": "A0ABK0LNP5_RAT",
            "refseq_ac": "NP_001178680",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calcium voltage-gated channel auxiliary subunit alpha2delta 4",
                    "type": "synonym"
                },
                {
                    "name": "calcium channel, voltage-dependent, alpha 2/delta subunit 4",
                    "type": "synonym"
                },
                {
                    "name": "voltage-dependent calcium channel subunit alpha-2/delta-4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cacna2d4",
                    "type": "recommended"
                },
                {
                    "name": "Cacna2d4",
                    "type": "synonym"
                },
                {
                    "name": "RGD1562038",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LNP5-1",
            "evidence": [
                {
                    "id": "0081023",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081023"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IP22-1",
            "uniprot_ac": "Q8IP22",
            "uniprot_id": "Q8IP22_DROME",
            "refseq_ac": "NP_001260486",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG42817-PB",
                    "type": "synonym"
                },
                {
                    "name": "Ca-Ma2d-PB",
                    "type": "synonym"
                },
                {
                    "name": "Ca[2+] channel Muscle-specific alpha2/delta subunit, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Ca[2+] channel Muscle-specific alpha2/delta subunit, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Muscle-specific alpha2/delta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ca-Ma2d",
                    "type": "recommended"
                },
                {
                    "name": "BG:DS07473.1",
                    "type": "synonym"
                },
                {
                    "name": "CG12455",
                    "type": "synonym"
                },
                {
                    "name": "CG42817",
                    "type": "synonym"
                },
                {
                    "name": "Ca-Ma2d",
                    "type": "synonym"
                },
                {
                    "name": "DS07473.1A",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG42817",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG42817",
                    "type": "synonym"
                },
                {
                    "name": "Ma2/d",
                    "type": "synonym"
                },
                {
                    "name": "alpha2delta-3",
                    "type": "synonym"
                },
                {
                    "name": "d",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IP22-1",
            "evidence": [
                {
                    "id": "0081023",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081023"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081023"
}