{
  "id": 15267,
  "label": "Rienhoff syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014262",
  "properties": {
    "xrefs": [
      "DOID:0070236",
      "EFO:1000012",
      "GARD:0012356",
      "MEDGEN:816342",
      "OMIM:615582",
      "UMLS:C3810012"
    ],
    "synonyms": [
      "Loeys-Dietz syndrome type 5",
      "Rienhoff syndrome",
      "LDS5",
      "Loeys-Dietz syndrome 5"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0003900",
        "name": "connective tissue disorder"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS, no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 6893,
      "label": "skeletal system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4222
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0002461",
          "MEDGEN:538042",
          "SCTID:88230002",
          "UMLS:C0263661"
        ],
        "synonyms": [
          "disease of skeletal system",
          "disease or disorder of skeletal system",
          "disorder of skeletal system",
          "skeletal system disease",
          "skeletal system disease or disorder",
          "disease of bone and/or joint",
          "osteoarthropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A disease involving the skeletal system."
      },
      "child_count": 48,
      "reference_id": "MONDO:0005172"
    },
    {
      "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": 6893,
      "label": "skeletal system disorder"
    },
    {
      "id": 18876,
      "label": "Loeys-Dietz syndrome"
    }
  ]
}