{
  "id": 12586,
  "label": "catecholaminergic polymorphic ventricular tachycardia 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011484",
  "properties": {
    "xrefs": [
      "DOID:0060675",
      "DOID:0110071",
      "GARD:0024803",
      "MEDGEN:351513",
      "MESH:C563409",
      "NCIT:C123414",
      "OMIM:600996",
      "OMIM:604772",
      "UMLS:C1631597"
    ],
    "synonyms": [
      "ARVC2",
      "ARVD2",
      "RYR2 familial isolated arrhythmogenic right ventricular dysplasia",
      "arrhythmogenic right ventricular cardiomyopathy 2",
      "arrhythmogenic right ventricular dysplasia 2",
      "arrhythmogenic right ventricular dysplasia type 2",
      "arrhythmogenic right ventricular dysplasia, familial, type 2",
      "catecholaminergic polymorphic ventricular tachycardia 1",
      "catecholaminergic polymorphic ventricular tachycardia type 1",
      "familial arrhythmogenic right ventricular dysplasia 2",
      "familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in RYR2",
      "ventricular tachycardia, catecholaminergic polymorphic, 1",
      "CPVT1",
      "arrhythmogenic right ventricular dysplasia, familial, 2",
      "ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy",
      "ventricular tachycardia, stress-induced polymorphic"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "Polymorphic ventricular tachycardia induced by adrenergic stress. It is inherited in an autosomal dominant pattern and is caused by mutations in the ryanodine receptor 2 (RYR2) gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16881,
      "label": "familial isolated arrhythmogenic right ventricular dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6933,
        17077
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017129",
          "MEDGEN:901869",
          "OMIMPS:107970",
          "Orphanet:217656",
          "SCTID:715865008",
          "UMLS:C4274968",
          "icd11.foundation:460188584"
        ],
        "synonyms": [
          "familial isolated ARVC",
          "familial isolated ARVD",
          "familial isolated arrhythmogenic right ventricular cardiomyopathy",
          "familial isolated arrhythmogenic right ventricular dysplasia",
          "familial isolated arrhythmogenic ventricular cardiomyopathy",
          "familial isolated arrhythmogenic ventricular dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Familial isolated arrhythmogenic right ventricular dysplasia (ARVC) is the familial autosomal dominant form of ARVC, a heart muscle disease characterized by life-threatening ventricular arrhythmias with left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks, and that is due to dystrophy and fibro-fatty replacement of the right ventricular myocardium that may lead to right ventricular aneurysms."
      },
      "child_count": 32,
      "reference_id": "MONDO:0016342"
    },
    {
      "id": 18166,
      "label": "catecholaminergic polymorphic ventricular tachycardia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3258,
        9929,
        20013
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060674",
          "GARD:0004421",
          "MEDGEN:1803763",
          "MESH:C536334",
          "NANDO:2200216",
          "NANDO:2200221",
          "OMIMPS:604772",
          "Orphanet:3286",
          "SCTID:419671004",
          "UMLS:C5574922",
          "icd11.foundation:976309888"
        ],
        "synonyms": [
          "CPVT",
          "bidirectional tachycardia induced by catecholamine",
          "catecholaminergic polymorphic ventricular tachycardia",
          "double tachycardia induced by catecholamines",
          "malignant paroxysmal ventricular tachycardia",
          "multifocal ventricular premature beats",
          "ventricular tachycardia, catecholaminergic polymorphic",
          "catecholamine-induced polymorphic ventricular tachycardia",
          "familial polymorphic ventricular tachycardia",
          "polymorphic catecholergic ventricular tachycardia",
          "stress-induced polymorphic ventricular tachycardia",
          "syncopal paroxysmal tachycardia"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe genetic arrhythmogenic disorder characterized by adrenergically induced ventricular tachycardia (VT) manifesting as syncope and sudden death."
      },
      "child_count": 21,
      "reference_id": "MONDO:0017990"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16881,
      "label": "familial isolated arrhythmogenic right ventricular dysplasia"
    },
    {
      "id": 18166,
      "label": "catecholaminergic polymorphic ventricular tachycardia"
    }
  ]
}