{
  "id": 13940,
  "label": "cardiomyopathy, familial restrictive, 3",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012900",
  "properties": {
    "xrefs": [
      "DOID:0111427",
      "GARD:0018072",
      "MEDGEN:382807",
      "MESH:C567316",
      "OMIM:612422",
      "UMLS:C2676271"
    ],
    "synonyms": [
      "TNNT2 familial isolated restrictive cardiomyopathy",
      "cardiomyopathy, familial restrictive, 3",
      "cardiomyopathy, familial restrictive, type 3",
      "familial isolated restrictive cardiomyopathy caused by mutation in TNNT2",
      "RCM3"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "Any familial isolated restrictive cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16880,
      "label": "familial restrictive cardiomyopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6919,
        6933
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020532",
          "ICD9:425.4",
          "MEDGEN:468561",
          "OMIMPS:115210",
          "Orphanet:217635",
          "SCTID:233878008",
          "UMLS:C0340429"
        ],
        "synonyms": [
          "hereditary restrictive cardiomyopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "An instance of restrictive cardiomyopathy that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 20,
      "reference_id": "MONDO:0016340"
    },
    {
      "id": 26612,
      "label": "TNNT2-related cardiomyopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24272
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "TNNT2-related cardiomyopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A genetically heterogeneous cardiac disorder caused by pathogenic variants in the TNNT2 gene and inherited in an autosomal dominant manner. Affected individuals present with a spectrum of cardiomyopathy phenotypes, including dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), restrictive cardiomyopathy (RCM), and left ventricular noncompaction (LVNC). Clinical features may include heart failure, ventricular arrhythmias, and sudden cardiac death. Overlapping or mixed cardiomyopathy phenotypes, as well as variable expressivity within families, have also been reported."
      },
      "child_count": 3,
      "reference_id": "MONDO:1010193"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16880,
      "label": "familial restrictive cardiomyopathy"
    },
    {
      "id": 26612,
      "label": "TNNT2-related cardiomyopathy"
    }
  ]
}