{
  "id": 21469,
  "label": "aortic valve disease 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0024523",
  "properties": {
    "xrefs": [
      "DOID:0080333",
      "GARD:0018470",
      "MEDGEN:854610",
      "OMIM:109730",
      "UMLS:C3887892"
    ],
    "synonyms": [
      "AOVD1",
      "NOTCH1 aortic valve disease",
      "Notch1 aortic valve disease",
      "aortic valve disease 1",
      "aortic valve disease caused by mutation in NOTCH1",
      "aortic valve disease caused by mutation in Notch1",
      "aortic stenosis, calcific",
      "aortic valve disease",
      "aortic valve, bicuspid",
      "aortic valve, calcification of",
      "bicuspid aortic valve"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "Any aortic valve disease in which the cause of the disease is a mutation in the NOTCH1 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": 29323,
      "label": "NOTCH1-related AOS spectrum disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        24272,
        24336
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A disease characterized by a spectrum of cardiac and extracardiac phenotypes caused by a disease-causing variant in the NOTCH1 gene, inherited in an autosomal dominant manner. Affected individuals may present with congenital heart defects, bicuspid aortic valve, aortic valve stenosis, thoracic aortic aneurysm or dissection, anomalies in brain structure, intracranial or posterior circulation vascular anomalies, cutaneous vascular malformations, cutis marmorata, and/or a phenotype compatible with Adams-Oliver syndrome (i.e. cutis aplasia, terminal limb defects, skull ossification defects)."
      },
      "child_count": 6,
      "reference_id": "MONDO:1060150"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 8600,
      "label": "familial bicuspid aortic valve"
    },
    {
      "id": 29323,
      "label": "NOTCH1-related AOS spectrum disorder"
    }
  ]
}