{
  "id": 3181,
  "label": "arrhythmogenic right ventricular dysplasia 13",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0000908",
  "properties": {
    "xrefs": [
      "DOID:0110084",
      "GARD:0022844",
      "MEDGEN:816468",
      "OMIM:615616",
      "UMLS:C3810138"
    ],
    "synonyms": [
      "ARVC13",
      "ARVD13",
      "CTNNA3 arrhythmogenic right ventricular cardiomyopathy",
      "arrhythmogenic right ventricular cardiomyopathy 13",
      "arrhythmogenic right ventricular cardiomyopathy caused by mutation in CTNNA3",
      "arrhythmogenic right ventricular dysplasia type 13",
      "arrhythmogenic right ventricular dysplasia, familial, 13",
      "arrhythmogenic right ventricular dysplasia, familial, type 13"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the CTNNA3 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"
    }
  ]
}