{
  "id": 13273,
  "label": "Loeys-Dietz syndrome 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012212",
  "properties": {
    "xrefs": [
      "DOID:0070235",
      "GARD:0009458",
      "MEDGEN:1646567",
      "NCIT:C75119",
      "OMIM:609192",
      "Orphanet:97295",
      "UMLS:C4551955"
    ],
    "synonyms": [
      "Furlong syndrome",
      "Loeys-Dietz syndrome 1",
      "Loeys-Dietz syndrome caused by mutation in TGFBR1",
      "Loeys-Dietz syndrome type 1",
      "TGFBR1 Loeys-Dietz syndrome",
      "LDS1",
      "Loeys-Dietz aortic aneurysm syndrome",
      "aortic aneurysm, familial thoracic 5"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0003900",
        "name": "connective tissue disorder"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "A rare autosomal dominant syndrome caused by mutations in the TGFBR1 gene. It is characterized by vascular abnormalities (aortic and arterial aneurysms, aortic dissection, and tortuosity of the arteries), hypertelorism, bifid uvula, and early fusion of the skull bones."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18876,
      "label": "Loeys-Dietz syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        4370,
        7065,
        17630
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050466",
          "GARD:0010788",
          "ICD9:759.89",
          "MEDGEN:395827",
          "MESH:D055947",
          "NANDO:2200969",
          "NCIT:C75006",
          "NORD:91173",
          "OMIMPS:609192",
          "Orphanet:60030",
          "SCTID:446263001",
          "UMLS:C2697932"
        ],
        "synonyms": [
          "Loeys-Dietz syndrome",
          "aortic aneurysm syndrome due to TGF-beta receptors anomalies",
          "aortic aneurysm syndrome, Loeys-Dietz type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum."
      },
      "child_count": 24,
      "reference_id": "MONDO:0018954"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18876,
      "label": "Loeys-Dietz syndrome"
    }
  ]
}