{
  "id": 9434,
  "label": "spinocerebellar ataxia type 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008119",
  "properties": {
    "xrefs": [
      "DOID:0050954",
      "GARD:0004071",
      "MEDGEN:155703",
      "NANDO:1200045",
      "NCIT:C129982",
      "OMIM:164400",
      "Orphanet:98755",
      "SCTID:715748006",
      "UMLS:C0752120",
      "icd11.foundation:2071487961"
    ],
    "synonyms": [
      "ATXN1 autosomal dominant cerebellar ataxia type I",
      "SCA1",
      "Sca1",
      "autosomal dominant cerebellar ataxia type I caused by mutation in ATXN1",
      "spinocerebellar ataxia type 1",
      "Menzel type OPCA",
      "OPCA 1",
      "OPCA 4",
      "OPCA1",
      "OPCA4",
      "Schut-haymaker type OPCA",
      "cerebelloparenchymal disorder 1",
      "olivopontocerebellar atrophy 1",
      "olivopontocerebellar atrophy 4",
      "spinocerebellar ataxia 1",
      "spinocerebellar atrophy 1"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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": 16361,
      "label": "Huntington disease-like syndrome"
    },
    {
      "id": 19535,
      "label": "autosomal dominant cerebellar ataxia type I"
    }
  ]
}