{
  "id": 26612,
  "label": "TNNT2-related cardiomyopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:1010193",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 24272,
      "label": "cardiogenetic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6967
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "hereditary heart disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions, with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that are characterized by abnormalities in the cardiovascular system."
      },
      "child_count": 146,
      "reference_id": "MONDO:0100547"
    }
  ],
  "children": [
    {
      "id": 8668,
      "label": "hypertrophic cardiomyopathy 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        21518,
        26612
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007266"
    },
    {
      "id": 12221,
      "label": "dilated cardiomyopathy 1D",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18829,
        24709,
        26612
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110426",
          "GARD:0015332",
          "MEDGEN:316943",
          "MESH:C563306",
          "OMIM:601494",
          "UMLS:C1832243"
        ],
        "synonyms": [
          "CMD1D",
          "TNNT2 familial isolated dilated cardiomyopathy",
          "cardiomyopathy, dilated, type 1D",
          "dilated cardiomyopathy 1D",
          "dilated cardiomyopathy type 1D",
          "familial isolated dilated cardiomyopathy caused by mutation in TNNT2",
          "cardiomyopathy, dilated, 1D",
          "left ventricular noncompaction 6"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011095"
    },
    {
      "id": 13940,
      "label": "cardiomyopathy, familial restrictive, 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16880,
        26612
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012900"
    }
  ],
  "roots": [
    {
      "id": 24272,
      "label": "cardiogenetic disease"
    }
  ]
}