{
  "id": 12487,
  "label": "long QT syndrome 3",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011377",
  "properties": {
    "xrefs": [
      "DOID:0110646",
      "GARD:0003286",
      "MEDGEN:349087",
      "MESH:C565840",
      "NCIT:C137959",
      "OMIM:603830",
      "UMLS:C1859062"
    ],
    "synonyms": [
      "LQT3",
      "SCN5A long QT syndrome",
      "long QT syndrome 3",
      "long QT syndrome caused by mutation in SCN5A",
      "long QT syndrome type 3",
      "long QT syndrome 2/3, digenic",
      "long QT syndrome 3, acquired, susceptibility to",
      "long QT syndrome 3/6, digenic"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "An autosomal dominant condition caused by mutation(s) in the SCN5A gene, encoding sodium channel protein type 5 subunit alpha. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19046,
      "label": "familial long QT syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4527,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016547",
          "MEDGEN:685787",
          "MedDRA:10057926",
          "NANDO:2200228",
          "NORD:1675",
          "OMIMPS:192500",
          "Orphanet:101016",
          "Orphanet:768",
          "SCTID:442917000",
          "UMLS:C1141890",
          "icd11.foundation:1208831985"
        ],
        "synonyms": [
          "LQTS",
          "Long QT Syndrome",
          "Romano-Ward long QT syndrome",
          "Romano-Ward syndrome",
          "Ward-Romano syndrome",
          "congenital long QT syndrome",
          "familial long QT syndrome",
          "hereditary long QT syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A hereditary cardiac disease characterized by a prolongation of the QT interval at basal ECG and by a high risk of life-threatening arrhythmias."
      },
      "child_count": 38,
      "reference_id": "MONDO:0019171"
    },
    {
      "id": 26602,
      "label": "SCN5A-related cardiac rhythm disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        26601
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "SCN5A-related cardiac rhythm disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A heterogeneous collection of cardiac rhythm disorders caused by genetic variations in the SCN5A gene with autosomal dominant inheritance. Affected individuals are commonly reported to have unremarkable cardiac morphology and at least one cardiac rhythm phenotype that includes, but is not limited to, atrial fibrillation, sick sinus syndrome, progressive cardiac conduction disease, ventricular fibrillation, long QT syndrome, and Brugada syndrome."
      },
      "child_count": 6,
      "reference_id": "MONDO:1010181"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19046,
      "label": "familial long QT syndrome"
    },
    {
      "id": 26602,
      "label": "SCN5A-related cardiac rhythm disorder"
    }
  ]
}