{
  "id": 13597,
  "label": "autosomal recessive ataxia, Beauce type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012549",
  "properties": {
    "xrefs": [
      "DOID:0111618",
      "GARD:0012234",
      "MEDGEN:343973",
      "OMIM:610743",
      "Orphanet:88644",
      "UMLS:C1853116"
    ],
    "synonyms": [
      "ARCA1",
      "SCAR8",
      "autosomal recessive cerebellar ataxia type 1",
      "spinocerebellar ataxia, autosomal recessive type 8",
      "SYNE1-related autosomal recessive cerebellar ataxia",
      "ataxia, recessive, of Beauce",
      "autosomal recessive ataxia Beauce type",
      "autosomal recessive spinocerebellar ataxia 8",
      "cerebellar ataxia, autosomal recessive, type 1",
      "recessive ataxia of Beauce",
      "spinocerebellar ataxia autosomal recessive 8",
      "spinocerebellar ataxia, autosomal recessive 8"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A rare disorder characterized by a slowly progressive pure cerebellar ataxia associated with dysarthria. It has been described in 53 individuals from 26 families of Canadian origin. The mode of transmission is autosomal recessive. Positional cloning has led to the identification of several gene mutations."
  },
  "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"
    }
  ]
}