{
  "id": 8668,
  "label": "hypertrophic cardiomyopathy 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007266",
  "properties": {
    "xrefs": [
      "DOID:0110308",
      "GARD:0024540",
      "MEDGEN:349383",
      "MESH:C566171",
      "NCIT:C142892",
      "OMIM:115195",
      "UMLS:C1861864"
    ],
    "synonyms": [
      "CMH2",
      "TNNT2 hypertrophic cardiomyopathy",
      "cardiomyopathy, familial hypertrophic, type 2",
      "cardiomyopathy, hypertrophic, 2",
      "familial hypertrophic cardiomyopathy type 2",
      "hypertrophic cardiomyopathy 2",
      "hypertrophic cardiomyopathy caused by mutation in TNNT2",
      "hypertrophic cardiomyopathy type 2",
      "cardiomyopathy, familial hypertrophic, 2"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 21518,
      "label": "familial hypertrophic cardiomyopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6777,
        6933
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080326",
          "MEDGEN:183649",
          "MESH:D024741",
          "NCIT:C84773",
          "OMIMPS:192600",
          "Orphanet:155",
          "SCTID:471885006",
          "UMLS:C0949658",
          "icd11.foundation:1408928442"
        ],
        "synonyms": [
          "cardiomyopathy, familial hypertrophic",
          "familial hypertrophic cardiomyopathy",
          "familila or idiopathic hypertrophic obstructive cardiomyopathy",
          "hereditary hypertrophic cardiomyopathy",
          "hypertrophic familial cardiomyopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Hypertrophic cardiomyopathy caused by mutations in the genes encoding components of the sarcomere, in the absence of predisposing conditions."
      },
      "child_count": 80,
      "reference_id": "MONDO:0024573"
    },
    {
      "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": 21518,
      "label": "familial hypertrophic cardiomyopathy"
    },
    {
      "id": 26612,
      "label": "TNNT2-related cardiomyopathy"
    }
  ]
}