{
  "id": 8570,
  "label": "episodic ataxia type 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007163",
  "properties": {
    "xrefs": [
      "DOID:0050990",
      "GARD:0009602",
      "MEDGEN:314039",
      "MESH:C535506",
      "OMIM:108500",
      "Orphanet:97",
      "SCTID:420932006",
      "UMLS:C1720416"
    ],
    "synonyms": [
      "CACNA1A hereditary episodic ataxia",
      "episodic ataxia type 2",
      "hereditary episodic ataxia caused by mutation in CACNA1A",
      "APCA",
      "Acetazolamide-responsive episodic ataxia syndrome",
      "Acetazolamide-responsive hereditary paroxysmal cerebellar ataxia",
      "Acetazolamide-responsive, hereditary, paroxysmal, cerebellar ataxia",
      "CAPA",
      "Cerebellopathy, hereditary paroxysmal",
      "EA2",
      "Nystagmus-associated episodic ataxia",
      "ataxia, episodic, with Nystagmus",
      "ataxia, familial paroxysmal",
      "ataxia, familial, paroxysmal",
      "cerebellar ataxia, paroxysmal, Acetazolamide-responsive",
      "episodic ataxia with nystagmus",
      "episodic ataxia, Nystagmus-associated",
      "episodic ataxia, type 2",
      "familial paroxysmal ataxia"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A form of hereditary episodic ataxia (EA) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia."
  },
  "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"
    },
    {
      "id": 23992,
      "label": "CACNA1A-related complex neurodevelopmental disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24226,
        24241
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027064"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A progressive complex neurodevelopmental condition caused by variants in the CACNA1A gene. Phenotypic onset (usually) occurs around age 1 and most often includes intellectual disability but can also include epileptic encephalopathy, benign paroxysmal torticollis of infancy and paroxysmal tonic upgaze psychomotor delay, learning difficulties, absence epilepsy, episodic ataxia, and hemiplegic migraines."
      },
      "child_count": 8,
      "reference_id": "MONDO:0100254"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16808,
      "label": "hereditary episodic ataxia"
    },
    {
      "id": 23992,
      "label": "CACNA1A-related complex neurodevelopmental disorder"
    }
  ]
}