{
  "id": 13848,
  "label": "dilated cardiomyopathy 1AA",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012808",
  "properties": {
    "xrefs": [
      "DOID:0110428",
      "GARD:0015543",
      "MEDGEN:393713",
      "MESH:C567407",
      "OMIM:612158",
      "UMLS:C2677338"
    ],
    "synonyms": [
      "ACTN2 familial isolated dilated cardiomyopathy",
      "CMD1AA",
      "cardiomyopathy, dilated, 1AA, with or without LVNC",
      "cardiomyopathy, hypertrophic, 23, with or without LVNC",
      "dilated cardiomyopathy type 1AA",
      "familial isolated dilated cardiomyopathy caused by mutation in ACTN2",
      "cardiomyopathy, dilated, 1AA, with or without left ventricular noncompaction",
      "cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTN2 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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": 24723,
      "label": "ACTN2-related cardiac and skeletal myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24272,
        24618
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028023"
        ],
        "synonyms": [
          "ACTN2 familial isolated dilated cardiomyopathy",
          "CMD1AA",
          "cardiomyopathy, dilated, 1AA, with or without LVNC",
          "cardiomyopathy, hypertrophic, 23, with or without LVNC",
          "dilated cardiomyopathy 1AA with or without left ventricular noncompaction",
          "dilated cardiomyopathy type 1AA",
          "familial isolated dilated cardiomyopathy caused by mutation in ACTN2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A cardiac and skeletal muscle disorder caused by variation in the gene ACTN2. Cardiac features include but are not limited to cardiac features such as dilated cardiomyopathy, hypertrophic cardiomyopathy, restrictive cardiomyopathy, arrhythmias, left ventricular non-compaction, and left-dominant arrhythmogenic cardiomyopathy. Skeletal features include but are not limited to progressive distal and/or proximal muscle weakness, gait disturbance, muscle atrophy, and elevated creatine kinase."
      },
      "child_count": 6,
      "reference_id": "MONDO:0700349"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 24709,
      "label": "familial isolated dilated cardiomyopathy"
    },
    {
      "id": 24723,
      "label": "ACTN2-related cardiac and skeletal myopathy"
    }
  ]
}