{
  "id": 12639,
  "label": "dilated cardiomyopathy 1J",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011541",
  "properties": {
    "xrefs": [
      "DOID:0110440",
      "GARD:0017128",
      "MEDGEN:343105",
      "MESH:C565337",
      "OMIM:605362",
      "Orphanet:217622",
      "UMLS:C1854368"
    ],
    "synonyms": [
      "CMD1J",
      "EYA4 familial dilated cardiomyopathy",
      "cardiomyopathy, dilated, type 1J",
      "dilated cardiomyopathy 1J",
      "dilated cardiomyopathy type 1J",
      "familial dilated cardiomyopathy caused by mutation in EYA4",
      "neurosensory deafness with dilated cardiomyopathy",
      "neurosensory hearing loss with dilated cardiomyopathy",
      "sensorineural deafness with dilated cardiomyopathy",
      "sensorineural hearing loss with dilated cardiomyopathy",
      "cardiomyopathy, dilated, 1J",
      "cardiomyopathy, dilated, with sensorineural hearing loss, autosomal dominant"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "An extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16878,
      "label": "familial dilated cardiomyopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6757,
        6933
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020525",
          "MEDGEN:90951",
          "MESH:C536231",
          "OMIMPS:115200",
          "Orphanet:217607",
          "UMLS:C0340427",
          "icd11.foundation:423719003"
        ],
        "synonyms": [
          "hereditary dilated cardiomyopathy",
          "DCM",
          "dilated cardiomyopathy, familial",
          "hypokinetic dilated cardiomyopathy, familial",
          "idiopathic dilated cardiomyopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A a genetic form of heart disease that occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure."
      },
      "child_count": 58,
      "reference_id": "MONDO:0016333"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16878,
      "label": "familial dilated cardiomyopathy"
    }
  ]
}