{
    "disease_id": "DOID:0110224",
    "recommended_name": {
        "id": "DOID:0110224",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110224",
        "name": "Brugada syndrome 7",
        "description": "A Brugada syndrome that has_material_basis_in heterozygous mutation in the SCN3B gene on chromosome 11q24."
    },
    "synonyms": [
        {
            "id": "DOID:0110224",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110224",
            "name": "BRGDA7",
            "description": ""
        },
        {
            "id": "MONDO:0013146",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013146",
            "name": "Brugada syndrome 7",
            "description": "Any Brugada syndrome in which the cause of the disease is a mutation in the SCN3B gene."
        },
        {
            "id": "MONDO:0013146",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013146",
            "name": "BRGDA7",
            "description": ""
        },
        {
            "id": "MONDO:0013146",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013146",
            "name": "Brugada syndrome 7",
            "description": ""
        },
        {
            "id": "MONDO:0013146",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013146",
            "name": "Brugada syndrome caused by mutation in SCN3B",
            "description": ""
        },
        {
            "id": "MONDO:0013146",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013146",
            "name": "Brugada syndrome type 7",
            "description": ""
        },
        {
            "id": "MONDO:0013146",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013146",
            "name": "SCN3B Brugada syndrome",
            "description": ""
        },
        {
            "id": "MIM:613120",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613120",
            "name": "Brugada syndrome 7",
            "description": "Brugada syndrome 7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110224"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110224",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110224",
            "categories": []
        },
        {
            "id": "MONDO:0013146",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013146",
            "categories": []
        },
        {
            "id": "MIM:613120",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613120",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58HB91-1",
            "uniprot_ac": "A0AC58HB91",
            "uniprot_id": "A0AC58HB91_DANRE",
            "refseq_ac": "XP_073779249",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium channel regulatory subunit beta-3",
                    "type": "recommended"
                },
                {
                    "name": "sodium channel regulatory subunit beta-3 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "scn3b",
                    "type": "recommended"
                },
                {
                    "name": "scn3b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58HB91-1",
            "evidence": [
                {
                    "id": "0110224",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110224"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BHK2-1",
            "uniprot_ac": "Q8BHK2",
            "uniprot_id": "SCN3B_MOUSE",
            "refseq_ac": "NP_001077386",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium channel regulatory subunit beta-3",
                    "type": "recommended"
                },
                {
                    "name": "brain and heart sodium channel beta 3 subunit",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel regulatory subunit beta-3 isoform a precursor",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel regulatory subunit beta-3",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel subunit beta-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Scn3b",
                    "type": "recommended"
                },
                {
                    "name": "1110001K16Rik",
                    "type": "synonym"
                },
                {
                    "name": "4833414B02Rik",
                    "type": "synonym"
                },
                {
                    "name": "Scn3b",
                    "type": "synonym"
                },
                {
                    "name": "Scnb3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BHK2-1",
            "evidence": [
                {
                    "id": "0110224",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110224"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NY72-1",
            "uniprot_ac": "Q9NY72",
            "uniprot_id": "SCN3B_HUMAN",
            "refseq_ac": "NP_001035241",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium channel regulatory subunit beta-3",
                    "type": "recommended"
                },
                {
                    "name": "sodium channel regulatory subunit beta-3 precursor",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel regulatory subunit beta-3",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel subunit beta-3",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, voltage-gated, type III, beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated sodium channel beta-3 subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SCN3B",
                    "type": "recommended"
                },
                {
                    "name": "ATFB16",
                    "type": "synonym"
                },
                {
                    "name": "BRGDA7",
                    "type": "synonym"
                },
                {
                    "name": "HSA243396",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1158",
                    "type": "synonym"
                },
                {
                    "name": "SCN3B",
                    "type": "synonym"
                },
                {
                    "name": "SCNB3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NY72-1",
            "evidence": [
                {
                    "id": "613120",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613120"
                },
                {
                    "id": "0110224",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110224"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JK00-1",
            "uniprot_ac": "Q9JK00",
            "uniprot_id": "SCN3B_RAT",
            "refseq_ac": "NP_620797",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium channel regulatory subunit beta-3",
                    "type": "recommended"
                },
                {
                    "name": "sodium channel beta 3 subunit",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel regulatory subunit beta-3 precursor",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel regulatory subunit beta-3",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel subunit beta-3",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, voltage-gated, type III, beta subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Scn3b",
                    "type": "recommended"
                },
                {
                    "name": "Scn3b",
                    "type": "synonym"
                },
                {
                    "name": "Scnb3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JK00-1",
            "evidence": [
                {
                    "id": "0110224",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110224"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110224"
}
