{
  "id": 8600,
  "label": "familial bicuspid aortic valve",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007194",
  "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)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 5678,
      "label": "aortic valve disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4883,
        7210,
        23501
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:62",
          "EFO:0009531",
          "ICD9:395",
          "ICD9:424.1",
          "MEDGEN:226776",
          "NCIT:C78650",
          "UMLS:C1260873",
          "icd11.foundation:1609206873"
        ],
        "synonyms": [
          "aortic valve disease",
          "aortic valve disease or disorder",
          "aortic valve disorder",
          "disease of aortic valve",
          "disease or disorder of aortic valve",
          "disorder of aortic valve"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A disease involving the aortic valve."
      },
      "child_count": 15,
      "reference_id": "MONDO:0003803"
    },
    {
      "id": 20383,
      "label": "disorder of development or morphogenesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29380
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "ICD10CM:Q00-Q99",
          "MEDGEN:1843482",
          "UMLS:C0694457"
        ],
        "definition": "Any disease or disorder that disrupts the process development of an anatomical structure. Can be due to genetic or environmental causes. Typically happens during embryogenesis, but also includes post-embryonic development."
      },
      "child_count": 190,
      "reference_id": "MONDO:0021147"
    },
    {
      "id": 24272,
      "label": "cardiogenetic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6967
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "hereditary heart disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions, with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that are characterized by abnormalities in the cardiovascular system."
      },
      "child_count": 146,
      "reference_id": "MONDO:0100547"
    }
  ],
  "children": [
    {
      "id": 14914,
      "label": "aortic valve disease 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8600,
        24704
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013902"
    },
    {
      "id": 21469,
      "label": "aortic valve disease 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8600,
        29323
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0024523"
    },
    {
      "id": 22440,
      "label": "aortic valve disease 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8600
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0032783"
    }
  ],
  "roots": [
    {
      "id": 5678,
      "label": "aortic valve disorder"
    },
    {
      "id": 20383,
      "label": "disorder of development or morphogenesis"
    },
    {
      "id": 24272,
      "label": "cardiogenetic disease"
    }
  ]
}