{
    "disease_id": "DOID:0050451",
    "recommended_name": {
        "id": "DOID:0050451",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050451",
        "name": "Brugada syndrome",
        "description": "A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death."
    },
    "synonyms": [
        {
            "id": "DOID:0050451",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050451",
            "name": "Bangungut",
            "description": ""
        },
        {
            "id": "DOID:0050451",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050451",
            "name": "Brugada type idiopathic ventricular fibrillation",
            "description": ""
        },
        {
            "id": "DOID:0050451",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050451",
            "name": "Dream disease",
            "description": ""
        },
        {
            "id": "DOID:0050451",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050451",
            "name": "Pokkuri death syndrome",
            "description": ""
        },
        {
            "id": "DOID:0050451",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050451",
            "name": "SUNDS",
            "description": ""
        },
        {
            "id": "DOID:0050451",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050451",
            "name": "sudden unexplained nocturnal death syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011001",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011001",
            "name": "Brugada syndrome 1",
            "description": "Any Brugada syndrome in which the cause of the disease is a mutation in the SCN5A gene."
        },
        {
            "id": "MONDO:0011001",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011001",
            "name": "BRGDA1",
            "description": ""
        },
        {
            "id": "MONDO:0011001",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011001",
            "name": "Brugada syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0011001",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011001",
            "name": "Brugada syndrome caused by mutation in SCN5A",
            "description": ""
        },
        {
            "id": "MONDO:0011001",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011001",
            "name": "Brugada syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0011001",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011001",
            "name": "SCN5A Brugada syndrome",
            "description": ""
        },
        {
            "id": "MIM:601144",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601144",
            "name": "Brugada syndrome 1",
            "description": "Brugada syndrome 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0110218",
            "label": "Brugada syndrome 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110219",
            "label": "Brugada syndrome 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110220",
            "label": "Brugada syndrome 3",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110221",
            "label": "Brugada syndrome 4",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110222",
            "label": "Brugada syndrome 5",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110223",
            "label": "Brugada syndrome 6",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110224",
            "label": "Brugada syndrome 7",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110225",
            "label": "Brugada syndrome 8",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110226",
            "label": "Brugada syndrome 9",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0110226",
        "DOID:0110222",
        "DOID:0110220",
        "DOID:0110225",
        "DOID:0110224",
        "DOID:0110218",
        "DOID:0110221",
        "DOID:0110219",
        "DOID:0110223",
        "DOID:0050451"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050451",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050451",
            "categories": []
        },
        {
            "id": "MONDO:0011001",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011001",
            "categories": []
        },
        {
            "id": "MIM:601144",
            "database": "MIM",
            "url": "https://www.omim.org/entry/601144",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B8JIS5-1",
            "uniprot_ac": "B8JIS5",
            "uniprot_id": "B8JIS5_DANRE",
            "refseq_ac": "NP_001156323",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "glutathione transferase",
                    "type": "recommended"
                },
                {
                    "name": "2.5.1.18",
                    "type": "synonym"
                },
                {
                    "name": "GST class-mu",
                    "type": "synonym"
                },
                {
                    "name": "glutathione S-transferase M3 (brain)",
                    "type": "synonym"
                },
                {
                    "name": "glutathione S-transferase mu 3 (brain)",
                    "type": "synonym"
                },
                {
                    "name": "glutathione S-transferase mu tandem duplicate 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gstm.3",
                    "type": "recommended"
                },
                {
                    "name": "gstm.3",
                    "type": "synonym"
                },
                {
                    "name": "gstm3",
                    "type": "synonym"
                },
                {
                    "name": "im:6897516",
                    "type": "synonym"
                }
            ],
            "record_id": "B8JIS5-1",
            "evidence": [
                {
                    "id": "0050451",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050451"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14524-1",
            "uniprot_ac": "Q14524",
            "uniprot_id": "SCN5A_HUMAN",
            "refseq_ac": "NP_001153632",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium channel protein type 5 subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "Sodium channel protein cardiac muscle subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Sodium channel protein type V subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated sodium channel subunit alpha Nav1.5",
                    "type": "synonym"
                },
                {
                    "name": "cardiac tetrodotoxin-insensitive voltage-dependent sodium channel alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "hH1",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein cardiac muscle subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein type 5 subunit alpha isoform e",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein type 5 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, voltage-gated, type V, alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated sodium channel subunit alpha Nav1.5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SCN5A",
                    "type": "recommended"
                },
                {
                    "name": "CDCD2",
                    "type": "synonym"
                },
                {
                    "name": "CMD1E",
                    "type": "synonym"
                },
                {
                    "name": "CMPD2",
                    "type": "synonym"
                },
                {
                    "name": "HB1",
                    "type": "synonym"
                },
                {
                    "name": "HB2",
                    "type": "synonym"
                },
                {
                    "name": "HBBD",
                    "type": "synonym"
                },
                {
                    "name": "HH1",
                    "type": "synonym"
                },
                {
                    "name": "ICCD",
                    "type": "synonym"
                },
                {
                    "name": "IVF",
                    "type": "synonym"
                },
                {
                    "name": "LQT3",
                    "type": "synonym"
                },
                {
                    "name": "Nav1.5",
                    "type": "synonym"
                },
                {
                    "name": "PFHB1",
                    "type": "synonym"
                },
                {
                    "name": "SCN5A",
                    "type": "synonym"
                },
                {
                    "name": "SSS1",
                    "type": "synonym"
                },
                {
                    "name": "VF1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14524-1",
            "evidence": [
                {
                    "id": "601144",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/601144"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050451"
}
