{
  "id": 13770,
  "label": "aortic aneurysm, familial thoracic 6",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012730",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 14483,
      "label": "multisystemic smooth muscle dysfunction syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        7065,
        20415
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0012811",
          "MEDGEN:462551",
          "OMIM:613834",
          "Orphanet:404463",
          "UMLS:C3151201"
        ],
        "synonyms": [
          "ACTA2-related smooth muscle dysfunction syndrome",
          "multisystemic smooth muscle dysfunction syndrome",
          "congenital mydriasis, patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy",
          "mydriasis, congenital, with patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A spectrum of conditions caused by monoallelic pathogenic variants in ACTA2. Phenotypes can present in isolation or in combination and can include, but are not limited to: cardiovascular manifestations (heritable thoracic aortic aneurysm and dissection, coronary artery disease, patent ductus arteriosus, aortic pulmonary window, and/or early-onset atherosclerosis), smooth muscle cell dysfunction (hypoperistalsis, hydronephrosis and hydroureter, megacystis), ophthalmological manifestations (retinal vessel disease, congenital mydriasis and iris flocculi/hypoplasia), and a Moyamoya-like cerebrovascular disease."
      },
      "child_count": 6,
      "reference_id": "MONDO:0013452"
    },
    {
      "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": 14483,
      "label": "multisystemic smooth muscle dysfunction syndrome"
    },
    {
      "id": 19415,
      "label": "familial thoracic aortic aneurysm and aortic dissection"
    }
  ]
}