{
  "id": 22440,
  "label": "aortic valve disease 3",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0032783",
  "properties": {
    "xrefs": [
      "DOID:0080977",
      "GARD:0025742",
      "MEDGEN:1681142",
      "OMIM:618496",
      "UMLS:C5193127"
    ],
    "synonyms": [
      "AORTIC VALVE DISEASE 3",
      "AOVD3"
    ],
    "categories": [
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "Any aortic valve disease characterized by aortic stenosis and/or bicuspid aortic valve in which the cause of the disease is a mutation in the ROBO4 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 8600,
      "label": "familial bicuspid aortic valve",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5678,
        20383,
        24272
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080332",
          "GARD:0017670",
          "MEDGEN:1670287",
          "OMIMPS:109730",
          "Orphanet:402075",
          "UMLS:C4749284"
        ],
        "synonyms": [
          "familial BAV",
          "AOVD1",
          "aortic valve disease 1",
          "aortic valve disease type 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection)."
      },
      "child_count": 9,
      "reference_id": "MONDO:0007194"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 8600,
      "label": "familial bicuspid aortic valve"
    }
  ]
}