{
  "id": 12689,
  "label": "seizures, benign familial infantile, 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011593",
  "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"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17892,
      "label": "benign familial infantile epilepsy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16428,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060169",
          "GARD:0000857",
          "ICD9:V17.2",
          "MEDGEN:1806836",
          "OMIMPS:601764",
          "Orphanet:306",
          "SCTID:230410004",
          "UMLS:C5575231",
          "icd11.foundation:1944845279"
        ],
        "synonyms": [
          "BFIE",
          "BFIS",
          "benign familial infantile convulsions",
          "benign familial infantile seizures",
          "seizures, benign familial infantile"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life."
      },
      "child_count": 10,
      "reference_id": "MONDO:0017615"
    },
    {
      "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": 17892,
      "label": "benign familial infantile epilepsy"
    },
    {
      "id": 24281,
      "label": "PRRT2-associated paroxysmal movement disorder"
    }
  ]
}