{
  "id": 8671,
  "label": "dilated cardiomyopathy 1A",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007269",
  "properties": {
    "xrefs": [
      "DOID:0110425",
      "GARD:0018615",
      "MEDGEN:1875382",
      "OMIM:115200",
      "Orphanet:300751",
      "SCTID:766883006",
      "UMLS:C5979868",
      "icd11.foundation:884022112"
    ],
    "synonyms": [
      "CDCD1",
      "LMNA familial isolated dilated cardiomyopathy",
      "cardiomyopathy dilated with conduction defect type 1",
      "cardiomyopathy, dilated, type 1A",
      "dilated cardiomyopathy 1A",
      "dilated cardiomyopathy type 1A",
      "familial dilated cardiomyopathy with conduction defect due to LMNA mutation",
      "familial isolated dilated cardiomyopathy caused by mutation in LMNA",
      "cardiomyopathy, congestive",
      "cardiomyopathy, dilated, 1A",
      "cardiomyopathy, dilated, with conduction defect 1",
      "cardiomyopathy, familial idiopathic",
      "cardiomyopathy, idiopathic dilated"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase."
  },
  "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"
    }
  ]
}