{
  "id": 11965,
  "label": "CARASIL syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010829",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 15757,
      "label": "cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        8822
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 1,
      "reference_id": "MONDO:0014768"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 15757,
      "label": "cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2"
    }
  ]
}