{
  "id": 14297,
  "label": "dilated cardiomyopathy 1R",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013261",
  "properties": {
    "xrefs": [
      "DOID:0110456",
      "GARD:0015661",
      "MEDGEN:462031",
      "OMIM:613424",
      "UMLS:C3150681"
    ],
    "synonyms": [
      "ACTC1 familial isolated dilated cardiomyopathy",
      "CMD1R",
      "cardiomyopathy, dilated, type 1R",
      "dilated cardiomyopathy type 1R",
      "familial isolated dilated cardiomyopathy caused by mutation in ACTC1",
      "cardiomyopathy, dilated, 1R",
      "left ventricular noncompaction 4"
    ],
    "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 ACTC1 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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18829,
      "label": "left ventricular noncompaction"
    },
    {
      "id": 24709,
      "label": "familial isolated dilated cardiomyopathy"
    }
  ]
}