{
  "id": 15829,
  "label": "spinocerebellar ataxia, autosomal recessive 22",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014845",
  "properties": {
    "xrefs": [
      "DOID:0111614",
      "GARD:0025026",
      "MEDGEN:934748",
      "OMIM:616948",
      "UMLS:C4310781"
    ],
    "synonyms": [
      "SCAR22",
      "VWA3B autosomal recessive cerebellar ataxia",
      "autosomal recessive cerebellar ataxia caused by mutation in VWA3B",
      "spinocerebellar ataxia, autosomal recessive 22",
      "spinocerebellar ataxia, autosomal recessive 22; SCAR22",
      "spinocerebellar ataxia, autosomal recessive type 22"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the VWA3B gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16133,
      "label": "autosomal recessive cerebellar ataxia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7611,
        24046
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050950",
          "GARD:0018718",
          "MEDGEN:1843058",
          "OMIMPS:213200",
          "Orphanet:1172",
          "UMLS:C5575375"
        ],
        "synonyms": [
          "ARCA",
          "arca",
          "cerebellar ataxia, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both the central and peripheral nervous system (and in some cases other systems and organs), and characterized by degeneration or abnormal development of the cerebellum and spinal cord and, in most cases, early onset occurring before the age of 20 years."
      },
      "child_count": 58,
      "reference_id": "MONDO:0015244"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16133,
      "label": "autosomal recessive cerebellar ataxia"
    }
  ]
}