{
  "id": 9370,
  "label": "episodic ataxia type 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008047",
  "properties": {
    "xrefs": [
      "DOID:0050989",
      "GARD:0016641",
      "MEDGEN:318554",
      "OMIM:160120",
      "Orphanet:37612",
      "SCTID:421182009",
      "UMLS:C1719788"
    ],
    "synonyms": [
      "EA1",
      "Isaacs-Mertens syndrome",
      "KCNA1 hereditary episodic ataxia",
      "acetazolamide-responsive periodic ataxia",
      "ataxia, episodic, with myokymia",
      "continuous muscle fiber activity",
      "episodic ataxia with myokymia",
      "episodic ataxia, type 1",
      "episodic ataxia/myokymia syndrome",
      "familial paroxysmal kinesigenic ataxia and continuous myokymia",
      "hereditary episodic ataxia caused by mutation in KCNA1",
      "hereditary paroxysmal ataxia with neuromyotonia",
      "myokymia with episodic ataxia",
      "myokymia with periodic ataxia",
      "paroxysmal ataxia with neuromyotonia, hereditary",
      "myokymia 1"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A frequent form of hereditary episodic ataxia characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia."
  },
  "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"
    }
  ]
}