{
  "id": 11685,
  "label": "X-linked spinocerebellar ataxia type 3",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010529",
  "properties": {
    "xrefs": [
      "DOID:0111831",
      "GARD:0009981",
      "MEDGEN:337124",
      "MESH:C537315",
      "OMIM:301790",
      "Orphanet:85297",
      "SCTID:719817002",
      "UMLS:C1844936",
      "icd11.foundation:261426817"
    ],
    "synonyms": [
      "SCAX3",
      "X-linked ataxia-deafness syndrome",
      "spinocerebellar ataxia, X-linked type 3",
      "Scax3",
      "ataxia-deafness syndrome X-linked",
      "ataxia-deafness syndrome, X-linked",
      "spinocerebellar ataxia X-linked type 3",
      "spinocerebellar ataxia, X-linked 3"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A form of spinocerebellar degeneration characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy, and by a progressive course leading to death in childhood. It has been described one family with at least six affected males from five different sibships (connected through carrier females). It is transmitted as an X-linked recessive trait."
  },
  "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"
    }
  ]
}