{
  "id": 19886,
  "label": "Laubry-Pezzi syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020427",
  "properties": {
    "xrefs": [
      "GARD:0019646",
      "MEDGEN:1643612",
      "Orphanet:99094",
      "SCTID:764955006",
      "UMLS:C4707235"
    ],
    "synonyms": [
      "VSD with aortic insufficiency",
      "ventricular septal defect with aortic insufficiency"
    ],
    "categories": [
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "Laubry-Pezzi syndrome is a rare, non-syndromic, congenital heart malformation characterized by the prolapse of an aortic valve cusp into a subjacent ventricular septal defect due to Venturi effect, resulting in aortic regurgitation. Patients typically present with symptoms of progressive aortic valve insufficiency, such as shortness of breath, heart palpitations, chest pain and exercise intolerance."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19327,
      "label": "congenital heart malformation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        21294
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0005269",
          "MEDGEN:1680993",
          "Orphanet:88991",
          "UMLS:C3649636"
        ],
        "synonyms": [
          "congenital heart malformation",
          "disorder of heart development",
          "heart development disease",
          "congenital non-syndromic heart malformation",
          "rare congenital non-syndromic heart malformation"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A disease that has its basis in the disruption of heart development."
      },
      "child_count": 26,
      "reference_id": "MONDO:0019512"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19327,
      "label": "congenital heart malformation"
    }
  ]
}