{
  "id": 22660,
  "label": "spinocerebellar ataxia 47",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0033482",
  "properties": {
    "xrefs": [
      "DOID:0111743",
      "GARD:0022351",
      "MEDGEN:1636349",
      "OMIM:617931",
      "Orphanet:642747",
      "UMLS:C4693672"
    ],
    "synonyms": [
      "PUM1-related cerebellar ataxia",
      "spinocerebellar ataxia 47",
      "SCA47"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A rare hereditary ataxia characterized by adult onset of slowly progressive cerebellar degeneration with gait ataxia, dysmetria, dysarthria, and in some cases diplopia. Cognitive functions are normal, and seizures are absent. Magnetic resonance imaging reveals mild atrophy of the cerebellar vermis."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19840,
      "label": "autosomal dominant cerebellar ataxia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        16360,
        24046
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1441",
          "GARD:0004346",
          "ICD9:334.3",
          "MEDGEN:1684639",
          "NORD:825",
          "OMIMPS:164400",
          "Orphanet:99",
          "SCTID:129609000",
          "UMLS:C4087347"
        ],
        "synonyms": [
          "SCA",
          "spinocerebellar ataxia",
          "ADCA",
          "Autosomal Dominant Hereditary Ataxia",
          "autosomal dominant spinocerebellar ataxia",
          "cerebellar ataxia, autosomal dominant",
          "Pierre Marie cerebellar ataxia (formerly)"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1). In ACDA type 4, a cerebellar syndrome is associated with epilepsy."
      },
      "child_count": 45,
      "reference_id": "MONDO:0020380"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19840,
      "label": "autosomal dominant cerebellar ataxia"
    }
  ]
}