{
  "id": 14483,
  "label": "multisystemic smooth muscle dysfunction syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013452",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "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"
    },
    {
      "id": 20415,
      "label": "intestinal motility disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6756
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:586448",
          "UMLS:C0400865"
        ],
        "synonyms": [
          "disorder of intestinal motility"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ],
        "definition": "A disease that has its basis in the disruption of intestinal motility."
      },
      "child_count": 15,
      "reference_id": "MONDO:0021189"
    }
  ],
  "children": [
    {
      "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": 14570,
      "label": "Moyamoya disease 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        14483,
        17246
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015746",
          "MEDGEN:481320",
          "OMIM:614042",
          "UMLS:C3279690"
        ],
        "synonyms": [
          "ACTA2 Moyamoya disease",
          "Moyamoya disease 5",
          "Moyamoya disease caused by mutation in ACTA2",
          "Moyamoya disease type 5",
          "MYMY5"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any Moyamoya disease in which the cause of the disease is a mutation in the ACTA2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013542"
    }
  ],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 7065,
      "label": "vascular disorder"
    },
    {
      "id": 20415,
      "label": "intestinal motility disease"
    }
  ]
}