{
  "id": 17077,
  "label": "arrhythmogenic right ventricular cardiomyopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016587",
  "properties": {
    "xrefs": [
      "DOID:0050431",
      "GARD:0005847",
      "ICD9:425.4",
      "MEDGEN:87618",
      "MESH:D019571",
      "MedDRA:10058093",
      "NANDO:2100055",
      "NANDO:2200230",
      "NCIT:C84571",
      "Orphanet:247",
      "SCTID:281170005",
      "UMLS:C0349788",
      "icd11.foundation:1931494126"
    ],
    "synonyms": [
      "ARVD",
      "arrhythmogenic RVD",
      "arrhythmogenic right ventricular cardiomyopathy",
      "arrhythmogenic right ventricular dysplasia",
      "right ventricular dysplasia"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias and a risk of sudden cardiac death."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 3007,
      "label": "intrinsic cardiomyopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6735
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060036",
          "GARD:0022809"
        ],
        "synonyms": [
          "intrinsic cardiomyopathy",
          "primary cardiomyopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A cardiomyopathy that is due to abnormalities in heart muscle cells."
      },
      "child_count": 6,
      "reference_id": "MONDO:0000591"
    }
  ],
  "children": [
    {
      "id": 12143,
      "label": "Naxos disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6933,
        7611,
        17077,
        23832
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080551",
          "GARD:0009795",
          "MEDGEN:321991",
          "MESH:C538346",
          "OMIM:601214",
          "Orphanet:34217",
          "SCTID:715535009",
          "UMLS:C1832600",
          "icd11.foundation:633516876"
        ],
        "synonyms": [
          "KWWH type I",
          "NAXOS disease",
          "NXD",
          "Naxos disease",
          "keratoderma with woolly hair type I",
          "keratoderma with wooly hair type I",
          "keratosis palmoplantaris with arrythmogenic cardiomyopathy",
          "palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy",
          "palmoplantar keratoderma with arrythmogenic cardiomyopathy",
          "Mal De Naxos",
          "cardiomyopathy, arrhythmogenic right ventricular, with skin, hair, and nail abnormalities",
          "keratosis palmoplantaris arrythmogenic cardiomyopathy woolly hair",
          "keratosis palmoplantaris arrythmogenic cardiomyopathy wooly hair",
          "keratosis palmoplantaris with arrhythmogenic cardiomyopathy",
          "palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and woolly hair",
          "palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and wooly hair",
          "woolly hair palmoplantar keratoderma cardiac abnormalities",
          "woolly hair, palmoplantar keratoderma, and Cardiac abnormalities",
          "wooly hair palmoplantar keratoderma cardiac abnormalities",
          "wooly hair, palmoplantar keratoderma, and Cardiac abnormalities"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011017"
    },
    {
      "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"
    }
  ],
  "roots": [
    {
      "id": 3007,
      "label": "intrinsic cardiomyopathy"
    }
  ]
}