{
  "id": 8946,
  "label": "aortic aneurysm, familial thoracic 4",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007568",
  "properties": {
    "xrefs": [
      "GARD:0009876",
      "MEDGEN:338704",
      "MESH:C537784",
      "OMIM:132900",
      "UMLS:C1851504"
    ],
    "synonyms": [
      "MYH11 familial thoracic aortic aneurysm and aortic dissection",
      "aortic aneurysm, familial thoracic 4",
      "aortic aneurysm, familial thoracic type 4",
      "familial thoracic aortic aneurysm and aortic dissection caused by mutation in MYH11",
      "AAT4",
      "FAA4",
      "aortic aneurysm/aortic dissection and patent ductus arteriosus"
    ],
    "categories": [
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the MYH11 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19415,
      "label": "familial thoracic aortic aneurysm and aortic dissection",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        7065
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002249",
          "ICD9:447.9",
          "MEDGEN:1644766",
          "OMIMPS:607086",
          "Orphanet:91387",
          "SCTID:45894003",
          "SCTID:764965000",
          "UMLS:C4707243"
        ],
        "synonyms": [
          "Erdheim disease",
          "FTAAD",
          "familial TAAD",
          "familial aortic dissection",
          "familial non-syndromic TAAD",
          "familial thoracic aortic aneurysm and aortic dissection",
          "nonsyndromic HTAD",
          "nonsyndromic familial thoracic aortic aneurysm and dissection",
          "nonsyndromic heritable thoracic aortic disease",
          "ns-FTAAD",
          "nsHTAD"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture."
      },
      "child_count": 18,
      "reference_id": "MONDO:0019625"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19415,
      "label": "familial thoracic aortic aneurysm and aortic dissection"
    }
  ]
}