{
  "id": 14909,
  "label": "Loeys-Dietz syndrome 4",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013897",
  "properties": {
    "xrefs": [
      "DOID:0070233",
      "GARD:0010588",
      "MEDGEN:766676",
      "OMIM:614816",
      "UMLS:C3553762"
    ],
    "synonyms": [
      "Loeys-Dietz syndrome 4",
      "Loeys-Dietz syndrome caused by mutation in TGFB2",
      "Loeys-Dietz syndrome type 4",
      "TGFB2 Loeys-Dietz syndrome",
      "LDS4",
      "aneurysm, aortic and cerebral, with arterial tortuosity and skeletal manifestations"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0003900",
        "name": "connective tissue disorder"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "Any Loeys-Dietz syndrome in which the cause of the disease is a mutation in the TGFB2 gene."
  },
  "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"
    }
  ]
}