{
  "id": 24281,
  "label": "PRRT2-associated paroxysmal movement disorder",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100556",
  "properties": {
    "xrefs": [
      "GARD:0028000"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A group of rare movement and seizure disorders caused by changes (disease-causing variants or mutations) in the PRRT2 gene. They include a spectrum of specific disorders including paroxysmal kinesigenic dyskinesia (PKD), benign familial infantile epilepsy (BFIE), paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) and hemiplegic migraine (HM). In addition, PRRT2 pathogenic variants have been identified in other childhood-onset movement disorders and different types of seizure conditions, such as paroxysmal torticollis, episodic ataxia and familial paroxysmal non-kinesigenic dyskinesia. It’s important to note that these disorders can also have different genetic causes."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 7073,
      "label": "movement disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:480",
          "EFO:0004280",
          "ICD9:333.90",
          "ICD9:333.99",
          "MEDGEN:10113",
          "MESH:D009069",
          "NCIT:C116757",
          "SCTID:60342002",
          "UMLS:C0026650"
        ],
        "synonyms": [
          "movement disease",
          "movement disorder",
          "movement disorders"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Neurological conditions resulting in abnormal voluntary or involuntary movement, which may impact the speed, fluency, quality and ease of movement."
      },
      "child_count": 54,
      "reference_id": "MONDO:0005395"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    }
  ],
  "children": [
    {
      "id": 12300,
      "label": "infantile convulsions and choreoathetosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        16273,
        16428,
        24281
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0008553",
          "MEDGEN:356123",
          "MESH:C535522",
          "NCIT:C126650",
          "OMIM:602066",
          "Orphanet:31709",
          "SCTID:715534008",
          "UMLS:C1865926"
        ],
        "synonyms": [
          "ICCA syndrome",
          "PKD/IC",
          "infantile convulsions and choreoathetosis",
          "paroxysmal kinesigenic dyskinesia and infantile convulsions",
          "ICCA",
          "Icca syndrome",
          "convulsions, familial infantile, with paroxysmal choreoathetosis",
          "convulsions, infantile, with paroxysmal choreoathetosis, familial",
          "infantile convulsions and paroxysmal choreoathetosis, familial",
          "paroxysmal kinesigenic dyskinesia with infantile convulsions"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy) and choreoathetotic dyskinetic attacks during childhood or adolescence."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011178"
    },
    {
      "id": 12689,
      "label": "seizures, benign familial infantile, 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17892,
        24281
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081115",
          "GARD:0016504",
          "MEDGEN:381313",
          "MESH:C565296",
          "OMIM:605751",
          "UMLS:C1853995"
        ],
        "synonyms": [
          "seizures, benign familial infantile, 2",
          "seizures, benign familial infantile, type 2",
          "BFIS2",
          "convulsions, benign familial infantile, 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0011593"
    },
    {
      "id": 24080,
      "label": "episodic kinesigenic dyskinesia 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23291,
        24281
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090053",
          "GARD:0026152",
          "ICD9:333.5",
          "MEDGEN:1636366",
          "MESH:C537180",
          "OMIM:128200",
          "SCTID:609221008",
          "UMLS:C4552000"
        ],
        "synonyms": [
          "PRRT2 episodic kinesigenic dyskinesia",
          "PxMD-PRRT2",
          "episodic kinesigenic dyskinesia 1",
          "episodic kinesigenic dyskinesia caused by mutation in PRRT2",
          "episodic kinesigenic dyskinesia type 1",
          "DYT-PRRT2",
          "EKD1",
          "dystonia 10",
          "dystonia, familial paroxysmal",
          "paroxysmal kinesigenic choreoathetosis",
          "paroxysmal kinesigenic dyskinesia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0100352"
    }
  ],
  "roots": [
    {
      "id": 7073,
      "label": "movement disorder"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}