{
  "id": 8696,
  "label": "spinocerebellar ataxia type 31",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007296",
  "properties": {
    "xrefs": [
      "DOID:0050980",
      "GARD:0009975",
      "MEDGEN:348439",
      "MESH:C566146",
      "NANDO:1200044",
      "NCIT:C176901",
      "OMIM:117210",
      "Orphanet:217012",
      "SCTID:715826005",
      "UMLS:C1861736",
      "icd11.foundation:250956064"
    ],
    "synonyms": [
      "SCA31",
      "spinocerebellar ataxia type 31",
      "spinocerebellar ataxia 16q22-linked",
      "spinocerebellar ataxia 31",
      "spinocerebellar ataxia, 16Q22-linked"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the late-onset of cerebral ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19536,
      "label": "autosomal dominant cerebellar ataxia type III",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19840
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019253",
          "MEDGEN:1842779",
          "Orphanet:94148",
          "UMLS:C5680260"
        ],
        "synonyms": [
          "ADCA3",
          "ADCAIII",
          "Pure cerebellar syndrome-mild pyramidal signs syndrome",
          "autosomal dominant cerebellar ataxia type 3",
          "autosomal dominant cerebellar ataxia type III"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant cerebellar ataxia (ACDA) type III is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31."
      },
      "child_count": 10,
      "reference_id": "MONDO:0019793"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19536,
      "label": "autosomal dominant cerebellar ataxia type III"
    }
  ]
}