{
  "id": 13724,
  "label": "arrhythmogenic right ventricular dysplasia 12",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012684",
  "properties": {
    "xrefs": [
      "DOID:0110083",
      "GARD:0024880",
      "MEDGEN:409749",
      "MESH:C566925",
      "OMIM:611528",
      "UMLS:C1969081"
    ],
    "synonyms": [
      "ARVC12",
      "ARVD12",
      "JUP familial isolated arrhythmogenic right ventricular dysplasia",
      "arrhythmogenic right ventricular cardiomyopathy 12",
      "arrhythmogenic right ventricular dysplasia 12",
      "arrhythmogenic right ventricular dysplasia type 12",
      "arrhythmogenic right ventricular dysplasia, familial, type 12",
      "familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in JUP",
      "arrhythmogenic right ventricular dysplasia, familial, 12"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the JUP 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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16881,
      "label": "familial isolated arrhythmogenic right ventricular dysplasia"
    }
  ]
}