{
  "id": 9795,
  "label": "supravalvular aortic stenosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008504",
  "properties": {
    "xrefs": [
      "DOID:1929",
      "GARD:0000743",
      "HP:0004381",
      "ICD10CM:Q25.3",
      "MEDGEN:2001",
      "MedDRA:10042598",
      "NANDO:2200285",
      "NCIT:C85176",
      "OMIM:185500",
      "Orphanet:3193",
      "SCTID:268185002",
      "UMLS:C0003499",
      "icd11.foundation:1066595728"
    ],
    "synonyms": [
      "SVAS",
      "supravalvar aortic stenosis",
      "supravalvular aortic stenosis",
      "supravalvular aortic stenosis (disease)",
      "aortic supravalvular stenosis",
      "supravalvar aortic stenosis, Eisenberg type"
    ],
    "categories": [
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "SupraValvar Aortic Stenosis (SVAS) is characterized by the narrowing of the aorta lumen (close to its origin) or other arteries (branch pulmonary arteries, coronary arteries). This narrowing of the aorta or pulmonary branches may impede blood flow, resulting in heart murmur and ventricular hypertrophy (in case of aorta involvement). The narrowing results from a thickening of the artery wall, which is not related to atherosclerosis."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 23105,
      "label": "aortic valve stenosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5678,
        20383
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1712",
          "HP:0001650",
          "ICD10CM:I06.0",
          "ICD9:395.0",
          "MEDGEN:1621",
          "MESH:D001024",
          "NANDO:2200306",
          "NCIT:C50462",
          "SCTID:60573004",
          "SCTID:72011007",
          "UMLS:C0003507",
          "icd11.foundation:956813047"
        ],
        "synonyms": [
          "AS",
          "aortic stenosis",
          "rheumatic aortic stenosis",
          "rheumatic aortic valve stenosis",
          "stenosed aortic valve",
          "valvular aortic stenosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Aortic valve stenosis (AVS) is a condition characterized by narrowing of the heart's aortic valve opening. This narrowing prevents the valve from opening fully, which obstructs blood flow from the heart into the aorta, and onward to the rest of the body. AVS can range from mild to severe. Signs and symptoms typically develop when the narrowing of the opening is severe and may include chest pain (angina) or tightness; shortness of breath or fatigue (especially during exertion); feeling faint or fainting; heart palpitations; and heart murmur. Individuals with less severe congenital AVS (present at birth) may not develop symptoms until adulthood. Individuals with severe cases may faint without warning. AVS can have several causes including abnormal development before birth (such as having 1 or 2 valve leaflets instead of 3); calcium build-up on the valve in adulthood; and rheumatic fever."
      },
      "child_count": 8,
      "reference_id": "MONDO:0042981"
    },
    {
      "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": [],
  "roots": [
    {
      "id": 23105,
      "label": "aortic valve stenosis"
    },
    {
      "id": 24272,
      "label": "cardiogenetic disease"
    }
  ]
}