{
  "id": 29323,
  "label": "NOTCH1-related AOS spectrum disorder",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:1060150",
  "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)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    },
    {
      "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"
    },
    {
      "id": 24336,
      "label": "syndromic congenital heart disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        7116
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Congenital heart disease with co-occurrence of other extracardiac congenital anomalies, or well characterized genetic conditions."
      },
      "child_count": 16,
      "reference_id": "MONDO:0100614"
    }
  ],
  "children": [
    {
      "id": 15459,
      "label": "Adams-Oliver syndrome 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8453,
        19479,
        29323
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016049",
          "MEDGEN:863407",
          "OMIM:616028",
          "UMLS:C4014970"
        ],
        "synonyms": [
          "AOS5",
          "Adams-Oliver syndrome 5",
          "Adams-Oliver syndrome caused by mutation in NOTCH1",
          "Adams-Oliver syndrome caused by mutation in Notch1",
          "Adams-Oliver syndrome type 5"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the NOTCH1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014459"
    },
    {
      "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"
    }
  ],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 24272,
      "label": "cardiogenetic disease"
    },
    {
      "id": 24336,
      "label": "syndromic congenital heart disease"
    }
  ]
}