{
  "id": 16147,
  "label": "Brugada syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015263",
  "properties": {
    "xrefs": [
      "DOID:0050451",
      "GARD:0001030",
      "ICD9:746.89",
      "MEDGEN:222975",
      "MESH:D053840",
      "MedDRA:10059027",
      "NCIT:C142891",
      "NORD:878",
      "OMIMPS:601144",
      "Orphanet:130",
      "SCTID:418818005",
      "UMLS:C1142166",
      "icd11.foundation:1250136584"
    ],
    "synonyms": [
      "Brugada syndrome",
      "Brugada type idiopathic ventricular fibrillation",
      "idiopathic ventricular fibrillation, Brugada type",
      "right bundle branch block, ST segment elevation, and sudden death syndrome",
      "sudden unexplained nocturnal death syndrome",
      "sudden unexpected nocturnal death syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "A genetically heterogeneous condition characterized by complete or incomplete right bundle branch block accompanied by ST elevation in leads V1-V3. There is a high incidence of ventricular arrhythmia that may result in sudden death."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 9,
  "parents": [
    {
      "id": 3258,
      "label": "heart conduction disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6967
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:10273",
          "ICD9:426.6",
          "SCTID:44808001"
        ],
        "synonyms": [
          "cardiac conduction disease",
          "cardiac conduction disorder",
          "conduction disease of heart",
          "disease of cardiac conduction",
          "disorder of cardiac conduction"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A disease that has its basis in the disruption of the heart's electrical conduction system."
      },
      "child_count": 10,
      "reference_id": "MONDO:0000992"
    },
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 26601,
      "label": "cardiogenetic rhythm disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        8666,
        24272
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "cardiogenetic rhythm disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Any cardiac rhythm disorder with a monogenic etiology that includes, but is not limited to, atrial fibrillation, sick sinus syndrome, progressive cardiac conduction disease, ventricular fibrillation, Brugada syndrome, long QT syndrome, short QT syndrome, tachycardia with fibrillation."
      },
      "child_count": 18,
      "reference_id": "MONDO:1010180"
    }
  ],
  "children": [
    {
      "id": 12127,
      "label": "Brugada syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16147,
        26602
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110218",
          "GARD:0024766",
          "MEDGEN:1646402",
          "OMIM:601144",
          "UMLS:C4551804"
        ],
        "synonyms": [
          "BRGDA1",
          "Brugada syndrome 1",
          "Brugada syndrome caused by mutation in SCN5A",
          "Brugada syndrome type 1",
          "SCN5A Brugada syndrome",
          "Cardiac conduction defect, nonspecific",
          "right bundle branch block, St segment elevation, and sudden death syndrome",
          "sudden unexplained nocturnal death syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Any Brugada syndrome in which the cause of the disease is a mutation in the SCN5A gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011001"
    },
    {
      "id": 13768,
      "label": "Brugada syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16147
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110219",
          "GARD:0015526",
          "MEDGEN:382031",
          "MESH:C567087",
          "OMIM:611777",
          "UMLS:C2673193"
        ],
        "synonyms": [
          "BRGDA2",
          "Brugada syndrome 2",
          "Brugada syndrome caused by mutation in GPD1L",
          "Brugada syndrome type 2",
          "GPD1L Brugada syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Any Brugada syndrome in which the cause of the disease is a mutation in the GPD1L gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012728"
    },
    {
      "id": 13782,
      "label": "Brugada syndrome 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16147,
        24701
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110220",
          "GARD:0010361",
          "MEDGEN:395633",
          "MESH:C567509",
          "OMIM:611875",
          "UMLS:C2678478"
        ],
        "synonyms": [
          "BRGDA3",
          "Brugada syndrome 3",
          "Brugada syndrome caused by mutation in CACNA1C",
          "Brugada syndrome type 3",
          "CACNA1C Brugada syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Any Brugada syndrome in which the cause of the disease is a mutation in the CACNA1C gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012742"
    },
    {
      "id": 13783,
      "label": "Brugada syndrome 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16147
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110221",
          "GARD:0010362",
          "MEDGEN:395632",
          "MESH:C567508",
          "OMIM:611876",
          "UMLS:C2678477"
        ],
        "synonyms": [
          "BRGDA4",
          "Brugada syndrome 4",
          "Brugada syndrome caused by mutation in CACNB2",
          "Brugada syndrome type 4",
          "CACNB2 Brugada syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Any Brugada syndrome in which the cause of the disease is a mutation in the CACNB2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012743"
    },
    {
      "id": 14054,
      "label": "Brugada syndrome 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16147
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110222",
          "GARD:0015584",
          "MEDGEN:411607",
          "OMIM:612838",
          "UMLS:C2748541"
        ],
        "synonyms": [
          "BRGDA5",
          "Brugada syndrome 5",
          "Brugada syndrome caused by mutation in SCN1B",
          "Brugada syndrome type 5",
          "SCN1B Brugada syndrome",
          "Cardiac conduction defect, nonspecific"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Any Brugada syndrome in which the cause of the disease is a mutation in the SCN1B gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013015"
    },
    {
      "id": 14181,
      "label": "Brugada syndrome 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16147
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110223",
          "GARD:0015619",
          "MEDGEN:413473",
          "MESH:C567735",
          "OMIM:613119",
          "UMLS:C2751089"
        ],
        "synonyms": [
          "BRGDA6",
          "Brugada syndrome 6",
          "Brugada syndrome caused by mutation in KCNE3",
          "Brugada syndrome type 6",
          "KCNE3 Brugada syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Any Brugada syndrome in which the cause of the disease is a mutation in the KCNE3 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013145"
    },
    {
      "id": 14182,
      "label": "Brugada syndrome 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16147
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110224",
          "GARD:0015620",
          "MEDGEN:413472",
          "MESH:C567734",
          "OMIM:613120",
          "UMLS:C2751088"
        ],
        "synonyms": [
          "BRGDA7",
          "Brugada syndrome 7",
          "Brugada syndrome caused by mutation in SCN3B",
          "Brugada syndrome type 7",
          "SCN3B Brugada syndrome",
          "atrial fibrillation, familial, 16"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Any Brugada syndrome in which the cause of the disease is a mutation in the SCN3B gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013146"
    },
    {
      "id": 14184,
      "label": "Brugada syndrome 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16147
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110225",
          "GARD:0015622",
          "MEDGEN:413928",
          "MESH:C567732",
          "OMIM:613123",
          "UMLS:C2751083"
        ],
        "synonyms": [
          "BRGDA8",
          "Brugada syndrome 8",
          "Brugada syndrome caused by mutation in HCN4",
          "Brugada syndrome type 8",
          "HCN4 Brugada syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Any Brugada syndrome in which the cause of the disease is a mutation in the HCN4 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013148"
    },
    {
      "id": 15617,
      "label": "Brugada syndrome 9",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16147
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110226",
          "GARD:0016104",
          "MEDGEN:903155",
          "OMIM:616399",
          "UMLS:C4225340"
        ],
        "synonyms": [
          "BRGDA9",
          "Brugada syndrome 9",
          "Brugada syndrome caused by mutation in KCND3",
          "Brugada syndrome type 9",
          "KCND3 Brugada syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Any Brugada syndrome in which the cause of the disease is a mutation in the KCND3 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014621"
    }
  ],
  "roots": [
    {
      "id": 3258,
      "label": "heart conduction disease"
    },
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 26601,
      "label": "cardiogenetic rhythm disorder"
    }
  ]
}