{
  "id": 22867,
  "label": "cathepsin a-related arteriopathy-strokes-leukoencephalopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0035551",
  "properties": {
    "xrefs": [
      "GARD:0022320",
      "ICD10CM:I67.8",
      "MEDGEN:1804103",
      "Orphanet:575553",
      "UMLS:C5680354"
    ],
    "synonyms": [
      "CARASAL"
    ],
    "categories": [
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A rare genetic cerebral small vessel disease characterized by an adult-onset primary microangiopathy with severe atherosclerosis of arterioles and secondary leukoencephalopathy. Patients may present with migraine, transient ischemic attacks, stroke with central facial palsy, cognitive dysfunction with impaired concentration, dementia, depression, movement disorder, vertigo, dysphagia, dysarthria, sicca syndrome, impaired REM sleep, and therapy-resistant hypertension, among others. Brain MRI typically shows a leukoencephalopathy that is disproportionately severe and extensive compared to the clinical disease."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 12183,
      "label": "cerebrovascular disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7209,
        23165
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:6713",
          "EFO:0003763",
          "ICD10CM:I60-I69",
          "ICD9:430-438",
          "ICD9:434.91",
          "ICD9:437.8",
          "ICD9:437.9",
          "MEDGEN:858",
          "MESH:D002561",
          "NCIT:C2938",
          "SCTID:62914000",
          "UMLS:C0007820",
          "icd11.foundation:843843448"
        ],
        "synonyms": [
          "cerebrovascular disease",
          "cerebrovascular disorder",
          "CVA",
          "CVA (cerebral vascular accident)",
          "cerebral infarction",
          "cerebrovascular accident",
          "stroke"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A disorder resulting from inadequate blood flow in the vessels that supply the brain. Representative examples include cerebrovascular ischemia, cerebral embolism, and cerebral infarction."
      },
      "child_count": 48,
      "reference_id": "MONDO:0011057"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 12183,
      "label": "cerebrovascular disorder"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}