{
  "id": 14914,
  "label": "aortic valve disease 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013902",
  "properties": {
    "xrefs": [
      "DOID:0080334",
      "GARD:0018471",
      "MEDGEN:762200",
      "OMIM:614823",
      "UMLS:C3542024"
    ],
    "synonyms": [
      "SMAD6 aortic valve disease",
      "aortic valve disease 2",
      "aortic valve disease caused by mutation in SMAD6",
      "aortic valve disease type 2",
      "AOVD2",
      "aortic valve stenosis",
      "bicuspid aortic valve"
    ],
    "categories": [
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "Any aortic valve disease in which the cause of the disease is a mutation in the SMAD6 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"
    },
    {
      "id": 24704,
      "label": "SMAD6-related disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "SMAD6-related disease with variable craniosynostosis, aortic valve disease, and/or radioulnar synostosis"
        ],
        "definition": "A human disease in which the cause of the disease is a variation in the SMAD6 gene, and characterized by craniosynostosis with congenital heart disease and/or radioulnar synostosis."
      },
      "child_count": 3,
      "reference_id": "MONDO:0700324"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 8600,
      "label": "familial bicuspid aortic valve"
    },
    {
      "id": 24704,
      "label": "SMAD6-related disease"
    }
  ]
}