{
  "id": 15341,
  "label": "autosomal recessive spinocerebellar ataxia 16",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014339",
  "properties": {
    "xrefs": [
      "DOID:0080029",
      "GARD:0017689",
      "MEDGEN:1674542",
      "OMIM:615768",
      "Orphanet:412057",
      "UMLS:C5190574"
    ],
    "synonyms": [
      "SCAR16",
      "STUB1 autosomal recessive cerebellar ataxia",
      "autosomal recessive cerebellar ataxia caused by mutation in STUB1",
      "autosomal recessive spinocerebellar ataxia 16",
      "autosomal recessive spinocerebellar ataxia type 16",
      "spinocerebellar ataxia autosomal recessive type 16",
      "spinocerebellar ataxia, autosomal recessive type 16",
      "autosomal recessive cerebellar ataxia due to STUB1 deficiency",
      "spinocerebellar ataxia, autosomal recessive 16"
    ],
    "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 STUB1 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"
    }
  ]
}