{
  "id": 12865,
  "label": "spinocerebellar ataxia type 17",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011781",
  "properties": {
    "xrefs": [
      "DOID:0050967",
      "GARD:0010469",
      "MEDGEN:337637",
      "MESH:C563505",
      "MESH:C564616",
      "MESH:C565866",
      "NCIT:C179861",
      "OMIM:164700",
      "OMIM:213100",
      "OMIM:607136",
      "Orphanet:98759",
      "SCTID:719249005",
      "UMLS:C1846707",
      "icd11.foundation:1173627424"
    ],
    "synonyms": [
      "CPD2",
      "HDL4",
      "Huntington disease-like 4",
      "OPCA V",
      "OPCA with dementia and extrapyramidal signs",
      "SCA 17",
      "SCA17",
      "cerebelloparenchymal disorder II",
      "olivopontocerebellar atrophy 5",
      "olivopontocerebellar atrophy type 5",
      "spinocerebellar ataxia 17",
      "spinocerebellar ataxia type 17",
      "CPD, late-onset recessive type",
      "olivopontocerebellar atrophy V"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2729,
      "label": "cerebelloparenchymal disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {},
      "child_count": 2,
      "reference_id": "MONDO:0000114"
    },
    {
      "id": 16361,
      "label": "Huntington disease-like syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2754,
        16360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020029",
          "ICD9:333.99",
          "MEDGEN:777988",
          "MESH:C580174",
          "Orphanet:158266",
          "SCTID:702376003",
          "UMLS:C3711380"
        ],
        "synonyms": [
          "Huntington disease phenocopy syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 20,
      "reference_id": "MONDO:0015548"
    },
    {
      "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": 2729,
      "label": "cerebelloparenchymal disorder"
    },
    {
      "id": 16361,
      "label": "Huntington disease-like syndrome"
    },
    {
      "id": 19535,
      "label": "autosomal dominant cerebellar ataxia type I"
    }
  ]
}