{
  "id": 11689,
  "label": "X-linked spinocerebellar ataxia type 4",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010534",
  "properties": {
    "xrefs": [
      "DOID:0111832",
      "GARD:0009980",
      "MEDGEN:337122",
      "MESH:C537316",
      "OMIM:301840",
      "Orphanet:85292",
      "SCTID:719818007",
      "UMLS:C1844933",
      "icd11.foundation:1033689736"
    ],
    "synonyms": [
      "SCAX4",
      "X-linked ataxia-dementia syndrome",
      "spinocerebellar ataxia, X-linked type 4",
      "Scax4",
      "ataxia-dementia syndrome X-linked",
      "ataxia-dementia syndrome, X-linked",
      "spinocerebellar ataxia X-linked type 4",
      "spinocerebellar ataxia, X-linked 4"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Spinocerebellar ataxia, X-linked, type 4 is characterized by ataxia, pyramidal tract signs and adult-onset dementia. It has been described in three generations of one large family. The disease manifests during early childhood with delayed walking and tremor. The pyramidal signs appear progressively and by adulthood memory problems and dementia gradually become apparent. Transmission is X-linked but the causative gene has not yet been identified. The disease is usually fatal during the sixth decade of life."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17096,
      "label": "X-linked cerebellar ataxia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2902,
        24046
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050953",
          "DOID:0111828",
          "GARD:0020665",
          "Orphanet:247765"
        ],
        "synonyms": [
          "X-linked hereditary ataxia",
          "cerebellar ataxia, X-linked",
          "hereditary ataxia, X-linked"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "X-linked form of cerebellar ataxia."
      },
      "child_count": 18,
      "reference_id": "MONDO:0016612"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17096,
      "label": "X-linked cerebellar ataxia"
    }
  ]
}