{
  "id": 14570,
  "label": "Moyamoya disease 5",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013542",
  "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."
  },
  "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": 17246,
      "label": "Moyamoya disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        8158,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:13099",
          "GARD:0007064",
          "ICD10CM:I67.5",
          "MEDGEN:7726",
          "MESH:D009072",
          "MedDRA:10028047",
          "NANDO:1200183",
          "NANDO:2100228",
          "NANDO:2200850",
          "NCIT:C84895",
          "NORD:1457",
          "OMIMPS:252350",
          "Orphanet:2573",
          "SCTID:89142007",
          "UMLS:C0026654",
          "icd11.foundation:1746892088",
          "icd11.foundation:369231682"
        ],
        "synonyms": [
          "idiopathic Moyamoya disease",
          "progressive intracranial arterial occlusion",
          "MYMY",
          "Moyamoya disease, primary",
          "Moyamoya disease, secondary"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Moyamoya disease (MMD) is a rare intracranial arteriopathy involving progressive stenosis of the cerebral vasculature located at the base of the brain causing transient ischemic attacks or strokes."
      },
      "child_count": 16,
      "reference_id": "MONDO:0016820"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 14483,
      "label": "multisystemic smooth muscle dysfunction syndrome"
    },
    {
      "id": 17246,
      "label": "Moyamoya disease"
    }
  ]
}