{
  "id": 12300,
  "label": "infantile convulsions and choreoathetosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011178",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 16273,
      "label": "paroxysmal dyskinesia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16691
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018721",
          "ICD9:333.5",
          "MEDGEN:156242",
          "Orphanet:1431",
          "SCTID:49949003",
          "UMLS:C0752210"
        ],
        "synonyms": [
          "paroxysmal choreoathetosis",
          "paroxysmal dystonic choreoathetosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Paroxysmal dyskinesia (PD) is a rare heterogenous group of movement disorders manifesting as abnormal involuntary movements that recur episodically and last only a brief time. PD includes paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD), paroxysmal exertion-induced dyskinesia (PED) and a variant form of PKD, infantile convulsion and choreoathetosis (ICCA syndrome)."
      },
      "child_count": 5,
      "reference_id": "MONDO:0015427"
    },
    {
      "id": 16428,
      "label": "benign partial infantile seizures",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19724
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020076",
          "MEDGEN:1842641",
          "Orphanet:166311",
          "UMLS:C5680426"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 5,
      "reference_id": "MONDO:0015642"
    },
    {
      "id": 24281,
      "label": "PRRT2-associated paroxysmal movement disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7073,
        24270
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 6,
      "reference_id": "MONDO:0100556"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 16273,
      "label": "paroxysmal dyskinesia"
    },
    {
      "id": 16428,
      "label": "benign partial infantile seizures"
    },
    {
      "id": 24281,
      "label": "PRRT2-associated paroxysmal movement disorder"
    }
  ]
}