{
  "id": 13335,
  "label": "generalized epilepsy-paroxysmal dyskinesia syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012276",
  "properties": {
    "xrefs": [
      "DOID:0070442",
      "GARD:0016704",
      "MEDGEN:1801137",
      "MESH:C563719",
      "OMIM:609446",
      "Orphanet:79137",
      "UMLS:C5574945"
    ],
    "synonyms": [
      "GEPD",
      "PNKD3",
      "epilepsy, generalized, with paroxysmal dyskinesia",
      "generalised epilepsy and paroxysmal dyskinesia",
      "generalized epilepsy and paroxysmal dyskinesia",
      "paroxysmal nonkinesigenic dyskinesia, 3, with or without generalised epilepsy",
      "paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Generalized epilepsy-paroxysmal dyskinesia syndrome is characterized by the association of paroxysmal dyskinesia and generalized epilepsy (usually absence or generalized tonic-clonic seizures) in the same individual or family. The prevalence is unknown. Analysis in one of the reported families led to the identification of a causative mutation in the KCNMA1 gene (chromosome 10q22), encoding the alpha subunit of the BK channel. Transmission is autosomal dominant."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17942,
      "label": "familial partial epilepsy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7064,
        19725,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002173",
          "MEDGEN:1826100",
          "Orphanet:309",
          "UMLS:C5680862"
        ],
        "synonyms": [
          "familial focal epilepsy",
          "hereditary partial epilepsy",
          "epilepsy, partial, familial"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An instance of partial epilepsy that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 21,
      "reference_id": "MONDO:0017704"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17942,
      "label": "familial partial epilepsy"
    }
  ]
}