{
  "id": 12627,
  "label": "spinocerebellar ataxia type 13",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011529",
  "properties": {
    "xrefs": [
      "DOID:0050963",
      "GARD:0009611",
      "MEDGEN:344297",
      "MESH:C537195",
      "OMIM:605259",
      "Orphanet:98768",
      "SCTID:719209002",
      "UMLS:C1854488",
      "icd11.foundation:1191033828"
    ],
    "synonyms": [
      "SCA13",
      "spinocerebellar ataxia type 13",
      "autosomal dominant cerebellar ataxia with intellectual disability",
      "autosomal dominant cerebellar ataxia with mental retardation",
      "cerebellar ataxia, autosomal dominant with intellectual disability",
      "cerebellar ataxia, autosomal dominant with mental retardation",
      "spinocerebellar ataxia 13"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia."
  },
  "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"
    }
  ]
}