{
  "id": 13477,
  "label": "Loeys-Dietz syndrome 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012427",
  "properties": {
    "xrefs": [
      "DOID:0070234",
      "GARD:0010586",
      "MEDGEN:382398",
      "MESH:C537783",
      "NCIT:C114768",
      "OMIM:610168",
      "Orphanet:284973",
      "UMLS:C2674574"
    ],
    "synonyms": [
      "Loeys-Dietz syndrome 2",
      "Loeys-Dietz syndrome caused by mutation in TGFBR2",
      "Loeys-Dietz syndrome type 2",
      "Loeys-Dietz syndrome type II",
      "TGFBR2 Loeys-Dietz syndrome",
      "LDS2",
      "Marfan syndrome, type II",
      "Marfan syndrome, type II, formerly",
      "aortic aneurysm, familial thoracic 3"
    ],
    "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 inherited disorder of connective tissue caused by mutations in either the TGFBR1 or TGFBR2 gene. Like Loeys-Dietz syndrome type I the disease is characterized by enlargement of the aorta and other arteries, and arterial tortuosity, but skeletal signs are typically less severe or absent in type 2. Skin abnormalities, such as velvety skin are often present in type 2."
  },
  "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"
    }
  ]
}