{
  "id": 18876,
  "label": "Loeys-Dietz syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018954",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 6,
  "parents": [
    {
      "id": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    },
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 7065,
      "label": "vascular disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6736
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:178",
          "EFO:0004264",
          "ICD10CM:I00-I99",
          "ICD10CM:I70-I79",
          "ICD9:442.9",
          "MEDGEN:22621",
          "MESH:D014652",
          "NANDO:2100294",
          "NCIT:C35117",
          "SCTID:27550009",
          "UMLS:C0042373"
        ],
        "synonyms": [
          "disease of vasculature",
          "disease or disorder of vasculature",
          "disorder of vasculature",
          "vascular disorder",
          "vasculature disease",
          "vasculature disease or disorder",
          "vasculopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A general term used to describe any disease affecting blood vessels]. It includes vascular abnormalities caused by degenerative, metabolic and inflammatory conditions, embolic diseases, coagulative disorders, and functional disorders such as posteri or reversible encephalopathy syndrome."
      },
      "child_count": 60,
      "reference_id": "MONDO:0005385"
    },
    {
      "id": 17630,
      "label": "Marfan and Marfan-related disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        21247
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021129",
          "MEDGEN:1842966",
          "Orphanet:284993",
          "UMLS:C5681015"
        ],
        "categories": [
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ]
      },
      "child_count": 4,
      "reference_id": "MONDO:0017310"
    }
  ],
  "children": [
    {
      "id": 13273,
      "label": "Loeys-Dietz syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18876
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012212"
    },
    {
      "id": 13477,
      "label": "Loeys-Dietz syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18876
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012427"
    },
    {
      "id": 14458,
      "label": "aneurysm-osteoarthritis syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18876
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070237",
          "GARD:0010997",
          "MEDGEN:462437",
          "OMIM:613795",
          "Orphanet:284984",
          "UMLS:C3151087"
        ],
        "synonyms": [
          "Loeys-Dietz syndrome type 3",
          "aneurysm-osteoarthritis syndrome",
          "LDS3",
          "Loeys-Dietz syndrome 3",
          "Loeys-Dietz syndrome with osteoarthritis",
          "Loeys-Dietz syndrome, type 1C",
          "Loeys-Dietz syndrome, type 1C (formerly)",
          "Loeys-Dietz syndrome, type 1C, formerly",
          "Loeys-Dietz syndrome, type 3",
          "aneurysm - osteoarthritis syndrome",
          "aneurysms-osteoarthritis syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013426"
    },
    {
      "id": 14909,
      "label": "Loeys-Dietz syndrome 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18876
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013897"
    },
    {
      "id": 15267,
      "label": "Rienhoff syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6893,
        18876
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014262"
    },
    {
      "id": 21950,
      "label": "Loeys-Dietz syndrome 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18876
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030500"
    }
  ],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 7065,
      "label": "vascular disorder"
    },
    {
      "id": 17630,
      "label": "Marfan and Marfan-related disorder"
    }
  ]
}