{
  "id": 18166,
  "label": "catecholaminergic polymorphic ventricular tachycardia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017990",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 7,
  "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": 9929,
      "label": "ventricular tachycardia, familial",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7134,
        26601
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002263",
          "MEDGEN:83309",
          "OMIM:192605",
          "SCTID:233906007",
          "UMLS:C0340485"
        ],
        "synonyms": [
          "hereditary ventricular tachycardia",
          "ventricular tachycardia, familial",
          "ventricular tachycardia, idiopathic",
          "familial ventricular tachycardia",
          "ventricular tachycardia, familial polymorphic"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "An instance of ventricular tachycardia that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 2,
      "reference_id": "MONDO:0008648"
    },
    {
      "id": 20013,
      "label": "polymorphic ventricular tachycardia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7134
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "HP:0031677",
          "MEDGEN:138002",
          "NCIT:C111648",
          "SCTID:251159007",
          "UMLS:C0344432",
          "icd11.foundation:16452928"
        ],
        "synonyms": [
          "polymorphic ventricular tachycardia",
          "ventricular tachycardia, polymorphic"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A ventricular tachycardia that is irregular in rate and rhythm."
      },
      "child_count": 1,
      "reference_id": "MONDO:0020575"
    }
  ],
  "children": [
    {
      "id": 12586,
      "label": "catecholaminergic polymorphic ventricular tachycardia 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16881,
        18166
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011484"
    },
    {
      "id": 13802,
      "label": "catecholaminergic polymorphic ventricular tachycardia 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18166
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060676",
          "GARD:0015535",
          "MEDGEN:393837",
          "NCIT:C148368",
          "OMIM:611938",
          "UMLS:C2677794"
        ],
        "synonyms": [
          "CASQ2 catecholaminergic polymorphic ventricular tachycardia",
          "catecholaminergic polymorphic ventricular tachycardia 2",
          "catecholaminergic polymorphic ventricular tachycardia caused by mutation in CASQ2",
          "catecholaminergic polymorphic ventricular tachycardia type 2",
          "ventricular tachycardia, catecholaminergic polymorphic, type 2",
          "CPVT2",
          "ventricular tachycardia, catecholaminergic polymorphic, 2",
          "ventricular tachycardia, stress-induced polymorphic"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the CASQ2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012762"
    },
    {
      "id": 14558,
      "label": "catecholaminergic polymorphic ventricular tachycardia 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18166
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060677",
          "GARD:0015744",
          "MEDGEN:462813",
          "OMIM:614021",
          "UMLS:C3151463"
        ],
        "synonyms": [
          "TECRL catecholaminergic polymorphic ventricular tachycardia",
          "catecholaminergic polymorphic ventricular tachycardia 3",
          "catecholaminergic polymorphic ventricular tachycardia caused by mutation in TECRL",
          "catecholaminergic polymorphic ventricular tachycardia type 3",
          "CPVT3",
          "ventricular tachycardia, catecholaminergic polymorphic, 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the TECRL gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013529"
    },
    {
      "id": 14976,
      "label": "catecholaminergic polymorphic ventricular tachycardia 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18166
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060678",
          "GARD:0015880",
          "MEDGEN:766961",
          "OMIM:614916",
          "UMLS:C3554047"
        ],
        "synonyms": [
          "CALM1 catecholaminergic polymorphic ventricular tachycardia",
          "catecholaminergic polymorphic ventricular tachycardia 4",
          "catecholaminergic polymorphic ventricular tachycardia caused by mutation in CALM1",
          "catecholaminergic polymorphic ventricular tachycardia type 4",
          "ventricular tachycardia, catecholaminergic polymorphic, type 4",
          "CPVT4",
          "ventricular tachycardia, catecholaminergic polymorphic, 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the CALM1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013966"
    },
    {
      "id": 15197,
      "label": "catecholaminergic polymorphic ventricular tachycardia 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18166
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060679",
          "GARD:0015967",
          "MEDGEN:815866",
          "OMIM:615441",
          "UMLS:C3809536"
        ],
        "synonyms": [
          "TRDN catecholaminergic polymorphic ventricular tachycardia",
          "cardiac arrhythmia syndrome, with or without skeletal muscle weakness",
          "catecholaminergic polymorphic ventricular tachycardia 5",
          "catecholaminergic polymorphic ventricular tachycardia caused by mutation in TRDN",
          "catecholaminergic polymorphic ventricular tachycardia type 5",
          "CPVT5",
          "ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the TRDN gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014191"
    },
    {
      "id": 22567,
      "label": "long QT syndrome 16",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18166,
        19046
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070533",
          "GARD:0025773",
          "MEDGEN:1713991",
          "OMIM:618782",
          "UMLS:C5394068"
        ],
        "synonyms": [
          "long QT syndrome 16",
          "LQT16",
          "Ventricular Tachycardia, Catecholaminergic Polymorphic 6"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032915"
    },
    {
      "id": 24963,
      "label": "ventricular tachycardia, catecholaminergic polymorphic 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18166
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026532",
          "MEDGEN:1712279",
          "UMLS:C5394069"
        ],
        "synonyms": [
          "CPVT6"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0800374"
    }
  ],
  "roots": [
    {
      "id": 3258,
      "label": "heart conduction disease"
    },
    {
      "id": 9929,
      "label": "ventricular tachycardia, familial"
    },
    {
      "id": 20013,
      "label": "polymorphic ventricular tachycardia"
    }
  ]
}