{
    "disease_id": "DOID:0110221",
    "recommended_name": {
        "id": "DOID:0110221",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110221",
        "name": "Brugada syndrome 4",
        "description": "A Brugada syndrome that has_material_basis_in heterozygous mutation in the gene encoding the beta-2 subunit of the voltage-dependent L-type calcium channel (CACNB2) on chromosome 10p12."
    },
    "synonyms": [
        {
            "id": "DOID:0110221",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110221",
            "name": "BRGDA4",
            "description": ""
        },
        {
            "id": "MONDO:0012743",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012743",
            "name": "Brugada syndrome 4",
            "description": "Any Brugada syndrome in which the cause of the disease is a mutation in the CACNB2 gene."
        },
        {
            "id": "MONDO:0012743",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012743",
            "name": "BRGDA4",
            "description": ""
        },
        {
            "id": "MONDO:0012743",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012743",
            "name": "Brugada syndrome 4",
            "description": ""
        },
        {
            "id": "MONDO:0012743",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012743",
            "name": "Brugada syndrome caused by mutation in CACNB2",
            "description": ""
        },
        {
            "id": "MONDO:0012743",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012743",
            "name": "Brugada syndrome type 4",
            "description": ""
        },
        {
            "id": "MONDO:0012743",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012743",
            "name": "CACNB2 Brugada syndrome",
            "description": ""
        },
        {
            "id": "MIM:611876",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611876",
            "name": "Brugada syndrome 4",
            "description": "Brugada syndrome 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110221"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110221",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110221",
            "categories": []
        },
        {
            "id": "MONDO:0012743",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012743",
            "categories": []
        },
        {
            "id": "MIM:611876",
            "database": "MIM",
            "url": "https://www.omim.org/entry/611876",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32TUG0-1",
            "uniprot_ac": "A0AB32TUG0",
            "uniprot_id": "A0AB32TUG0_DANRE",
            "refseq_ac": "XP_068078517",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Voltage-dependent L-type calcium channel subunit beta-2",
                    "type": "recommended"
                },
                {
                    "name": "Calcium channel voltage-dependent subunit beta 2",
                    "type": "synonym"
                },
                {
                    "name": "voltage-dependent L-type calcium channel subunit beta-2a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cacnb2a",
                    "type": "recommended"
                },
                {
                    "name": "CACNB2.1",
                    "type": "synonym"
                },
                {
                    "name": "cacnb2a",
                    "type": "synonym"
                },
                {
                    "name": "cacnb2b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32TUG0-1",
            "evidence": [
                {
                    "id": "0110221",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110221"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AB13ABH3-1",
            "uniprot_ac": "A0AB13ABH3",
            "uniprot_id": "A0AB13ABH3_DANRE",
            "refseq_ac": "NP_001410657",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "CAB2a",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-dependent L-type calcium channel subunit beta-2b isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "voltage-dependent L-type calcium channel subunit beta-2b isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cacnb2b",
                    "type": "recommended"
                },
                {
                    "name": "CACNB2.2",
                    "type": "synonym"
                },
                {
                    "name": "cacnb2a",
                    "type": "synonym"
                },
                {
                    "name": "cacnb2b",
                    "type": "synonym"
                },
                {
                    "name": "im:7141271",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-32m20.2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB13ABH3-1",
            "evidence": [
                {
                    "id": "0110221",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110221"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CC27-1",
            "uniprot_ac": "Q8CC27",
            "uniprot_id": "CACB2_MOUSE",
            "refseq_ac": "NP_001296448",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Voltage-dependent L-type calcium channel subunit beta-2",
                    "type": "recommended"
                },
                {
                    "name": "CAB2",
                    "type": "synonym"
                },
                {
                    "name": "Calcium channel voltage-dependent subunit beta 2",
                    "type": "synonym"
                },
                {
                    "name": "calcium channel voltage-dependent beta 2 subunit isoform N4a",
                    "type": "synonym"
                },
                {
                    "name": "calcium channel voltage-dependent beta 2 subunit isoform N4b",
                    "type": "synonym"
                },
                {
                    "name": "voltage-dependent L-type calcium channel subunit beta-2 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "voltage-dependent L-type calcium channel subunit beta-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cacnb2",
                    "type": "recommended"
                },
                {
                    "name": "CAB2",
                    "type": "synonym"
                },
                {
                    "name": "Cacnb2",
                    "type": "synonym"
                },
                {
                    "name": "Cacnlb2",
                    "type": "synonym"
                },
                {
                    "name": "Cavbeta2",
                    "type": "synonym"
                },
                {
                    "name": "Cchb2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CC27-1",
            "evidence": [
                {
                    "id": "0110221",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110221"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q08289-1",
            "uniprot_ac": "Q08289",
            "uniprot_id": "CACB2_HUMAN",
            "refseq_ac": "NP_000715",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Voltage-dependent L-type calcium channel subunit beta-2",
                    "type": "recommended"
                },
                {
                    "name": "CAB2",
                    "type": "synonym"
                },
                {
                    "name": "Calcium channel voltage-dependent subunit beta 2",
                    "type": "synonym"
                },
                {
                    "name": "Lambert-Eaton myasthenic syndrome antigen B",
                    "type": "synonym"
                },
                {
                    "name": "MYSB",
                    "type": "synonym"
                },
                {
                    "name": "calcium channel voltage-dependent subunit beta 2",
                    "type": "synonym"
                },
                {
                    "name": "calcium channel, voltage-dependent, beta 2 subunit",
                    "type": "synonym"
                },
                {
                    "name": "lambert-Eaton myasthenic syndrome antigen B",
                    "type": "synonym"
                },
                {
                    "name": "myasthenic (Lambert-Eaton) syndrome antigen B",
                    "type": "synonym"
                },
                {
                    "name": "voltage-dependent L-type calcium channel subunit beta-2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "voltage-dependent L-type calcium channel subunit beta-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CACNB2",
                    "type": "recommended"
                },
                {
                    "name": "CAB2",
                    "type": "synonym"
                },
                {
                    "name": "CACNB2",
                    "type": "synonym"
                },
                {
                    "name": "CACNLB2",
                    "type": "synonym"
                },
                {
                    "name": "CAVB2",
                    "type": "synonym"
                },
                {
                    "name": "MYSB",
                    "type": "synonym"
                }
            ],
            "record_id": "Q08289-1",
            "evidence": [
                {
                    "id": "611876",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/611876"
                },
                {
                    "id": "0110221",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110221"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8VGC3-1",
            "uniprot_ac": "Q8VGC3",
            "uniprot_id": "CACB2_RAT",
            "refseq_ac": "NP_446303",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Voltage-dependent L-type calcium channel subunit beta-2",
                    "type": "recommended"
                },
                {
                    "name": "CAB2",
                    "type": "synonym"
                },
                {
                    "name": "Calcium channel voltage-dependent subunit beta 2",
                    "type": "synonym"
                },
                {
                    "name": "calcium channel voltage-dependent subunit beta 2",
                    "type": "synonym"
                },
                {
                    "name": "calcium channel, voltage-dependent, beta 2 subunit",
                    "type": "synonym"
                },
                {
                    "name": "voltage-dependent L-type calcium channel subunit beta-2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "voltage-dependent L-type calcium channel subunit beta-2",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated calcium channel beta2i subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cacnb2",
                    "type": "recommended"
                },
                {
                    "name": "Cacnb2",
                    "type": "synonym"
                },
                {
                    "name": "Cacnlb2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8VGC3-1",
            "evidence": [
                {
                    "id": "0110221",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110221"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M9PD84-1",
            "uniprot_ac": "M9PD84",
            "uniprot_id": "M9PD84_DROME",
            "refseq_ac": "NP_001260375",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG42403-PL",
                    "type": "synonym"
                },
                {
                    "name": "Ca-beta-PL",
                    "type": "synonym"
                },
                {
                    "name": "Ca2+-channel-protein beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "Ca2+-channel-protein-beta-subunit, isoform L",
                    "type": "synonym"
                },
                {
                    "name": "Ca[2+]-channel-protein-beta-subunit",
                    "type": "synonym"
                },
                {
                    "name": "calcium channel beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "calcium channel beta",
                    "type": "synonym"
                },
                {
                    "name": "lethal (2) 04008",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ca-beta",
                    "type": "recommended"
                },
                {
                    "name": "2L5",
                    "type": "synonym"
                },
                {
                    "name": "CG14922",
                    "type": "synonym"
                },
                {
                    "name": "CG14923",
                    "type": "synonym"
                },
                {
                    "name": "CG33305",
                    "type": "synonym"
                },
                {
                    "name": "CG42403",
                    "type": "synonym"
                },
                {
                    "name": "CG6320",
                    "type": "synonym"
                },
                {
                    "name": "Ca-beta",
                    "type": "synonym"
                },
                {
                    "name": "CaBeta",
                    "type": "synonym"
                },
                {
                    "name": "DmCa1beta",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG42403",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG42403",
                    "type": "synonym"
                },
                {
                    "name": "ca-beta",
                    "type": "synonym"
                },
                {
                    "name": "dmcab1",
                    "type": "synonym"
                },
                {
                    "name": "l(2)04008",
                    "type": "synonym"
                }
            ],
            "record_id": "M9PD84-1",
            "evidence": [
                {
                    "id": "0110221",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110221"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110221"
}