{
  "id": 14022,
  "label": "episodic ataxia type 6",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012982",
  "properties": {
    "xrefs": [
      "DOID:0050994",
      "GARD:0017107",
      "MEDGEN:390739",
      "MESH:C567207",
      "OMIM:612656",
      "Orphanet:209967",
      "SCTID:718753002",
      "UMLS:C2675211",
      "icd11.foundation:1493336901"
    ],
    "synonyms": [
      "SLC1A3 hereditary episodic ataxia",
      "episodic ataxia type 6",
      "hereditary episodic ataxia caused by mutation in SLC1A3",
      "EA6",
      "episodic ataxia, type 6"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Episodic ataxia type 6 (EA6) is an exceedingly rare form of hereditary episodic ataxia with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia."
  },
  "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": 19084,
      "label": "inborn disorder of amino acid transport",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6510
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018948",
          "ICD9:270.0",
          "MEDGEN:541381",
          "Orphanet:79166",
          "SCTID:16784003",
          "UMLS:C0268641",
          "icd11.foundation:1631611896"
        ],
        "synonyms": [
          "inborn disorder of amino acid absorption and transport",
          "disorder of amino acid absorption and transport"
        ]
      },
      "child_count": 19,
      "reference_id": "MONDO:0019216"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16808,
      "label": "hereditary episodic ataxia"
    },
    {
      "id": 19084,
      "label": "inborn disorder of amino acid transport"
    }
  ]
}