{
  "id": 19415,
  "label": "familial thoracic aortic aneurysm and aortic dissection",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019625",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 9,
  "parents": [
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    },
    {
      "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"
    }
  ],
  "children": [
    {
      "id": 8946,
      "label": "aortic aneurysm, familial thoracic 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19415
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007568"
    },
    {
      "id": 12854,
      "label": "aortic aneurysm, familial thoracic 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19415
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015409",
          "MEDGEN:335538",
          "MESH:C564627",
          "OMIM:607087",
          "UMLS:C1846837"
        ],
        "synonyms": [
          "aortic aneurysm, familial thoracic 2",
          "AAT2",
          "FAA2"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0011770"
    },
    {
      "id": 13770,
      "label": "aortic aneurysm, familial thoracic 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        14483,
        19415
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015527",
          "MEDGEN:435866",
          "MESH:C567085",
          "OMIM:611788",
          "UMLS:C2673186"
        ],
        "synonyms": [
          "ACTA2 familial thoracic aortic aneurysm and aortic dissection",
          "aortic aneurysm, familial thoracic 6",
          "aortic aneurysm, familial thoracic type 6",
          "familial thoracic aortic aneurysm and aortic dissection caused by mutation in ACTA2",
          "AAT6",
          "familial thoracic aortic aneurysm with livedo reticularis and iris flocculi"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "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 ACTA2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012730"
    },
    {
      "id": 14450,
      "label": "aortic aneurysm, familial thoracic 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19415
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015706",
          "MEDGEN:462427",
          "OMIM:613780",
          "UMLS:C3151077"
        ],
        "synonyms": [
          "aortic aneurysm, familial thoracic 7",
          "aortic aneurysm, familial thoracic type 7",
          "AAT7",
          "aortic dissection, familial, with or without aortic aneurysm"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013418"
    },
    {
      "id": 15194,
      "label": "aortic aneurysm, familial thoracic 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19415
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015966",
          "MEDGEN:815843",
          "OMIM:615436",
          "UMLS:C3809513"
        ],
        "synonyms": [
          "PRKG1 familial thoracic aortic aneurysm and aortic dissection",
          "aortic aneurysm, familial thoracic 8",
          "aortic aneurysm, familial thoracic type 8",
          "familial thoracic aortic aneurysm and aortic dissection caused by mutation in PRKG1",
          "AAT8"
        ],
        "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 PRKG1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014187"
    },
    {
      "id": 15513,
      "label": "aortic aneurysm, familial thoracic 9",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19415
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016067",
          "MEDGEN:863805",
          "OMIM:616166",
          "UMLS:C4015368"
        ],
        "synonyms": [
          "MFAP5 familial thoracic aortic aneurysm and aortic dissection",
          "aortic aneurysm, familial thoracic 9",
          "aortic aneurysm, familial thoracic type 9",
          "familial thoracic aortic aneurysm and aortic dissection caused by mutation in MFAP5",
          "AAT9",
          "aortic aneurysm, thoracic, with or without aortic dissection"
        ],
        "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 MFAP5 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014514"
    },
    {
      "id": 15929,
      "label": "aortic aneurysm, familial thoracic 10",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19415
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016207",
          "MEDGEN:924785",
          "OMIM:617168",
          "UMLS:C4284414"
        ],
        "synonyms": [
          "AAT10",
          "LOX familial thoracic aortic aneurysm and aortic dissection",
          "aortic aneurysm, familial thoracic 10",
          "aortic aneurysm, familial thoracic type 10",
          "familial thoracic aortic aneurysm and aortic dissection caused by mutation in LOX"
        ],
        "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 LOX gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014950"
    },
    {
      "id": 21504,
      "label": "aortic aneurysm, familial thoracic 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19415
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015408",
          "MEDGEN:91038",
          "MESH:C562834",
          "OMIM:607086",
          "Orphanet:229",
          "UMLS:C0345050"
        ],
        "synonyms": [
          "AAT1",
          "Erdheim cystic medial necrosis of aorta",
          "FAA1",
          "aneurysm, thoracic aortic",
          "annuloaortic ectasia",
          "aortic aneurysm, familial thoracic",
          "aortic dissection, familial"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0024559"
    },
    {
      "id": 22030,
      "label": "aortic aneurysm, familial thoracic 12",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19415
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025627",
          "MEDGEN:1802657",
          "OMIM:619825",
          "UMLS:C5676959"
        ],
        "synonyms": [
          "AAT12",
          "aortic aneurysm, familial thoracic 12"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030731"
    }
  ],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 7065,
      "label": "vascular disorder"
    }
  ]
}