{
  "id": 12221,
  "label": "dilated cardiomyopathy 1D",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011095",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18829,
      "label": "left ventricular noncompaction",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3007,
        6933,
        24336
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060480",
          "GARD:0010985",
          "MEDGEN:450531",
          "NANDO:2200231",
          "NCIT:C99544",
          "OMIMPS:604169",
          "Orphanet:54260",
          "UMLS:C1960469"
        ],
        "synonyms": [
          "LVNC",
          "Lv non-compaction syndrome",
          "left ventricular hypertrabeculation",
          "left ventricular non-compaction cardiomyopathy",
          "left ventricular non-compaction syndrome",
          "left ventricular noncompaction (disease)",
          "spongy myocardium"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Left ventricular noncompaction (LVNC) is a rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events."
      },
      "child_count": 39,
      "reference_id": "MONDO:0018901"
    },
    {
      "id": 24709,
      "label": "familial isolated dilated cardiomyopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16878
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027293",
          "MEDGEN:1826005",
          "Orphanet:154",
          "UMLS:C5679590",
          "icd11.foundation:949016860"
        ],
        "synonyms": [
          "familial isolated dilated cardiomyopathy",
          "familial or idiopathic dilated cardiomyopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A rare familial cardiomyopathy characterized by the dilation of left ventricle and progressively impairing of systolic ventricular function, in the absence of abnormal loading conditions or coronary artery disease sufficient to cause global systolic impairment. The disease may cause heart failure or arrhythmia. The disease is isolated when no additional atypical cardiac or extracardiac manifestations are present."
      },
      "child_count": 45,
      "reference_id": "MONDO:0700335"
    },
    {
      "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": 18829,
      "label": "left ventricular noncompaction"
    },
    {
      "id": 24709,
      "label": "familial isolated dilated cardiomyopathy"
    },
    {
      "id": 26612,
      "label": "TNNT2-related cardiomyopathy"
    }
  ]
}