{
  "id": 14495,
  "label": "episodic ataxia type 5",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013464",
  "properties": {
    "xrefs": [
      "DOID:0050993",
      "GARD:0017113",
      "MEDGEN:356142",
      "MESH:C566601",
      "OMIM:613855",
      "Orphanet:211067",
      "SCTID:718756005",
      "UMLS:C1866039"
    ],
    "synonyms": [
      "CACNB4 hereditary episodic ataxia",
      "hereditary episodic ataxia caused by mutation in CACNB4",
      "EA5",
      "episodic ataxia, type 5"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Episodic ataxia type 5 (EA5) is an extremely rare form of Hereditary episodic ataxia characterized by recurrent episodes of vertigo and ataxia lasting several hours."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16808,
      "label": "hereditary episodic ataxia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24045
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:963",
          "GARD:0020457",
          "MEDGEN:314033",
          "OMIMPS:160120",
          "Orphanet:211062",
          "SCTID:421455009",
          "UMLS:C1720189",
          "icd11.foundation:423095680"
        ],
        "synonyms": [
          "episodic ataxia",
          "Isaacs syndrome",
          "ea syndrome",
          "episodic ataxia syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Hereditary episodic ataxia (EA) represents a group of neurological disorders characterized by recurrent episodes of ataxia and vertigo which may be progressive. Weakness, dystonia and ataxia are sometimes present in the interictal period. Seven types of EA have been described to date (EA type 1 to EA type 7), but most of the reported cases belong to EA1 and EA2."
      },
      "child_count": 9,
      "reference_id": "MONDO:0016227"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16808,
      "label": "hereditary episodic ataxia"
    }
  ]
}