{
  "id": 16387,
  "label": "rolandic epilepsy-speech dyspraxia syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015587",
  "properties": {
    "xrefs": [
      "GARD:0017002",
      "MEDGEN:1633042",
      "Orphanet:163721",
      "UMLS:C4707308",
      "icd11.foundation:288052868"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A rare, genetic epilepsy characterized by speech disorder (including a range of symptoms from dysarthria, speech dyspraxia, receptive and expressive language delay/regression and acquired aphasia to subtle impairments of conversational speech) and epilepsy (mostly focal and secondary generalized childhood-onset seizures, sometimes with aura). Mild to severe intellectual disability may also be observed."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 19725,
      "label": "childhood-onset epilepsy syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16436
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019437",
          "MEDGEN:1843031",
          "Orphanet:98259",
          "UMLS:C5681526"
        ],
        "synonyms": [
          "childhood epilepsy syndrome",
          "childhood-onset epilepsy syndrome",
          "epilepsy syndrome of childhood",
          "paediatric epilepsy syndrome",
          "pediatric epilepsy syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A epilepsy syndrome that occurs during childhood."
      },
      "child_count": 16,
      "reference_id": "MONDO:0020072"
    }
  ],
  "children": [
    {
      "id": 11550,
      "label": "rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16387,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018282",
          "MEDGEN:337150",
          "MESH:C564467",
          "OMIM:300643",
          "UMLS:C1845070"
        ],
        "synonyms": [
          "rolandic epilepsy, impaired intellectual development, and speech dyspraxia",
          "rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked",
          "rolandic epilepsy, mental retardation, and speech dyspraxia, X-linked",
          "RESDX",
          "ROLANDIC epilepsy, intellectual disability, and speech dyspraxia, X-linked",
          "ROLANDIC epilepsy, mental retardation, and speech dyspraxia, X-linked"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010388"
    },
    {
      "id": 29315,
      "label": "GRIN2A-related rolandic epilepsy-speech dyspraxia syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16387,
        29313
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028159"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any rolandic epilepsy-speech dyspraxia syndrome in which the cause of the disease is a variation in GRIN2A gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:1060141"
    }
  ],
  "roots": [
    {
      "id": 19725,
      "label": "childhood-onset epilepsy syndrome"
    }
  ]
}