{
  "id": 11565,
  "label": "X-linked non progressive cerebellar ataxia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010404",
  "properties": {
    "xrefs": [
      "DOID:0111833",
      "GARD:0017439",
      "MEDGEN:394718",
      "MESH:C567478",
      "OMIM:300703",
      "Orphanet:314978",
      "SCTID:766818009",
      "UMLS:C2678048"
    ],
    "synonyms": [
      "SCAX5",
      "X-linked spinocerebellar ataxia type 5",
      "spinocerebellar ataxia, X-linked 5, X-linked recessive",
      "spinocerebellar ataxia, X-linked 5"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems."
  },
  "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"
    }
  ]
}