{
  "id": 12129,
  "label": "dilated cardiomyopathy 1E",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011003",
  "properties": {
    "xrefs": [
      "DOID:0110433",
      "GARD:0005644",
      "MEDGEN:331341",
      "MESH:C563384",
      "OMIM:601154",
      "UMLS:C1832680"
    ],
    "synonyms": [
      "CDCD2",
      "CMD1E",
      "SCN5A familial isolated dilated cardiomyopathy",
      "cardiomyopathy dilated with conduction defect type 2",
      "cardiomyopathy, dilated, 1E",
      "cardiomyopathy, dilated, type 1E",
      "cardiomyopathy, dilated, with conduction defect 2",
      "cardiomyopathy, dilated, with conduction disorder and arrhythmia",
      "dilated cardiomyopathy type 1E",
      "familial isolated dilated cardiomyopathy caused by mutation in SCN5A"
    ],
    "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 SCN5A gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "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": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 24709,
      "label": "familial isolated dilated cardiomyopathy"
    }
  ]
}