{
  "id": 8589,
  "label": "Machado-Joseph disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007182",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "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": [
    {
      "id": 17516,
      "label": "Machado-Joseph disease type 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8589
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021048",
          "MEDGEN:155610",
          "Orphanet:276238",
          "SCTID:91953003",
          "UMLS:C0751668",
          "icd11.foundation:1094680019"
        ],
        "synonyms": [
          "SCA3, Joseph type",
          "azorean disease, type i",
          "spinocerebellar ataxia type 3, Joseph type"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD) characterized by the presence of marked pyramidal and extrapyramidal signs."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017174"
    },
    {
      "id": 17517,
      "label": "Machado-Joseph disease type 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8589
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017175"
    },
    {
      "id": 17518,
      "label": "Machado-Joseph disease type 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8589
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021050",
          "MEDGEN:155611",
          "Orphanet:276244",
          "SCTID:91955005",
          "UMLS:C0751670",
          "icd11.foundation:1540439031"
        ],
        "synonyms": [
          "SCA3, Machado type",
          "azorean disease, type iii",
          "spinocerebellar ataxia type 3, Machado type"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017176"
    },
    {
      "id": 23091,
      "label": "Machado-Joseph disease type 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8589
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025852",
          "ICD9:334.3",
          "MEDGEN:673233",
          "SCTID:91956006",
          "UMLS:C0686352"
        ],
        "synonyms": [
          "azorean disease, type iv"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A subtype of Machado-Joseph disease characterized by Parkinsonian symptoms that respond particularly well to levodopa treatment."
      },
      "child_count": 0,
      "reference_id": "MONDO:0042964"
    }
  ],
  "roots": [
    {
      "id": 16361,
      "label": "Huntington disease-like syndrome"
    },
    {
      "id": 19535,
      "label": "autosomal dominant cerebellar ataxia type I"
    }
  ]
}