{
  "id": 17517,
  "label": "Machado-Joseph disease type 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017175",
  "properties": {
    "xrefs": [
      "GARD:0021049",
      "MEDGEN:199707",
      "Orphanet:276241",
      "SCTID:91954009",
      "UMLS:C0751669",
      "icd11.foundation:1775824880"
    ],
    "synonyms": [
      "SCA3, Thomas type",
      "azorean disease, type ii",
      "spinocerebellar ataxia, Thomas type"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 8589,
      "label": "Machado-Joseph disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16361,
        19535
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1440",
          "GARD:0006801",
          "ICD9:336.8",
          "MEDGEN:9841",
          "MESH:D017827",
          "NANDO:1200041",
          "NCIT:C84830",
          "NORD:1389",
          "OMIM:109150",
          "Orphanet:98757",
          "SCTID:91952008",
          "UMLS:C0024408"
        ],
        "synonyms": [
          "Azorean disease of the nervous system",
          "MJD",
          "Machado disease",
          "Machado-Joseph disease",
          "Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia",
          "SCA3",
          "autosomal dominant striatonigral degeneration",
          "spinocerebellar ataxia 3",
          "spinocerebellar ataxia type 3",
          "Azorean neurologic disease",
          "Nigrospinodentatal Degeneration",
          "Spinopontine atrophy",
          "spinocerebellar atrophy 3",
          "spinocerebellar atrophy type 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations."
      },
      "child_count": 8,
      "reference_id": "MONDO:0007182"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 8589,
      "label": "Machado-Joseph disease"
    }
  ]
}