{
  "id": 9750,
  "label": "spinocerebellar ataxia type 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008458",
  "properties": {
    "xrefs": [
      "DOID:0050955",
      "DOID:0060204",
      "GARD:0004072",
      "MEDGEN:155704",
      "NANDO:1200046",
      "NCIT:C148315",
      "OMIM:183090",
      "Orphanet:98756",
      "SCTID:715751004",
      "UMLS:C0752121",
      "icd11.foundation:1232187870"
    ],
    "synonyms": [
      "ATXN2 autosomal dominant cerebellar ataxia type I",
      "OPCA2",
      "SCA2",
      "autosomal dominant cerebellar ataxia type I caused by mutation in ATXN2",
      "spinocerebellar ataxia type 2",
      "ALS13",
      "SCA 2",
      "Wadia swami syndrome",
      "Wadia-swami syndrome",
      "amyotrophic lateral sclerosis 13",
      "amyotrophic lateral sclerosis type 13",
      "amyotrophic lateral sclerosis, susceptibility to, 13",
      "cerebellar Degeneration with slow eye movements",
      "olivopontocerebellar atrophy 2",
      "olivopontocerebellar atrophy Holguin type",
      "olivopontocerebellar atrophy, Holguin type",
      "spinocerebellar Degeneration with slow eye movements",
      "spinocerebellar ataxia 2",
      "spinocerebellar ataxia Cuban type",
      "spinocerebellar ataxia with slow eye movements",
      "spinocerebellar ataxia, Cuban type",
      "spinocerebellar atrophy 2"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 6868,
      "label": "familial amyotrophic lateral sclerosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6718,
        21302
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0001356",
          "GARD:0024155",
          "MEDGEN:1642547",
          "OMIMPS:105400",
          "UMLS:C4551993"
        ],
        "synonyms": [
          "hereditary amyotrophic lateral sclerosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An instance of amyotrophic lateral sclerosis that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 60,
      "reference_id": "MONDO:0005144"
    },
    {
      "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": [
    {
      "id": 11254,
      "label": "spinocerebellar degeneration with slow eye movements",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9750
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024704",
          "OMIM:271322"
        ],
        "synonyms": [
          "spinocerebellar degeneration with slow eye movements",
          "SDSEM"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010065"
    }
  ],
  "roots": [
    {
      "id": 6868,
      "label": "familial amyotrophic lateral sclerosis"
    },
    {
      "id": 16361,
      "label": "Huntington disease-like syndrome"
    },
    {
      "id": 19535,
      "label": "autosomal dominant cerebellar ataxia type I"
    }
  ]
}