{
  "id": 12544,
  "label": "spinocerebellar ataxia type 12",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011439",
  "properties": {
    "xrefs": [
      "DOID:0050962",
      "GARD:0010476",
      "MEDGEN:347653",
      "MESH:C565790",
      "NCIT:C154316",
      "OMIM:604326",
      "Orphanet:98762",
      "SCTID:719208005",
      "UMLS:C1858501",
      "icd11.foundation:1210063722"
    ],
    "synonyms": [
      "SCA12",
      "spinocerebellar ataxia type 12",
      "spinocerebellar ataxia 12"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19535,
      "label": "autosomal dominant cerebellar ataxia type I",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19840
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019252",
          "MEDGEN:1842696",
          "Orphanet:94145",
          "UMLS:C5680259"
        ],
        "synonyms": [
          "ADCA1",
          "ADCAI",
          "autosomal dominant cerebellar ataxia type 1",
          "cerebellar plus syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant cerebellar ataxia (ADCA) type I is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement."
      },
      "child_count": 30,
      "reference_id": "MONDO:0019792"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19535,
      "label": "autosomal dominant cerebellar ataxia type I"
    }
  ]
}