{
  "id": 21950,
  "label": "Loeys-Dietz syndrome 6",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0030500",
  "properties": {
    "xrefs": [
      "DOID:0060964",
      "GARD:0025581",
      "MEDGEN:1794251",
      "OMIM:619656",
      "UMLS:C5562041"
    ],
    "synonyms": [
      "LDS6"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0003900",
        "name": "connective tissue disorder"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ]
  },
  "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"
    }
  ]
}