{
  "id": 15757,
  "label": "cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014768",
  "properties": {
    "xrefs": [
      "DOID:0111036",
      "GARD:0025015",
      "MEDGEN:895965",
      "OMIM:616779",
      "UMLS:C4225211"
    ],
    "synonyms": [
      "CADASIL caused by mutation in HTRA1",
      "CADASIL type 2",
      "CADASIL2",
      "HTRA1 CADASIL",
      "cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "Any CADASIL in which the cause of the disease is a mutation in the HTRA1 gene."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 8822,
      "label": "cerebral arteriopathy with subcortical infarcts and leukoencephalopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        5714,
        7065
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:13945",
          "GARD:0024558",
          "ICD9:323.9",
          "ICD9:447.8",
          "MEDGEN:199687",
          "NANDO:1200545",
          "OMIMPS:125310",
          "UMLS:C0751587"
        ],
        "synonyms": [
          "CADASIL",
          "cerebral arteriopathy with subcortical infaracts and leukoencephalopathy",
          "cerebral arteriopathy with subcortical infarcts and leukoencephalopathy",
          "Casil",
          "cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy",
          "dementia, hereditary multi-infarct type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 9,
      "reference_id": "MONDO:0007432"
    }
  ],
  "children": [
    {
      "id": 11965,
      "label": "CARASIL syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        15757
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061228",
          "GARD:0010424",
          "MEDGEN:325051",
          "MESH:C563990",
          "NANDO:1200544",
          "NORD:888",
          "OMIM:600142",
          "Orphanet:199354",
          "SCTID:703219008",
          "UMLS:C1838577",
          "icd11.foundation:984450655"
        ],
        "synonyms": [
          "CARASIL",
          "Maeda syndrome",
          "cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy",
          "cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy",
          "cerebrovascular disease with thin skin, alopecia, and disc disease",
          "cerebrovascular disease with thin skin, alopecia, and disk disease",
          "subcortical vascular encephalopathy, progressive"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010829"
    }
  ],
  "roots": [
    {
      "id": 8822,
      "label": "cerebral arteriopathy with subcortical infarcts and leukoencephalopathy"
    }
  ]
}