{
  "id": 17644,
  "label": "early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017325",
  "properties": {
    "xrefs": [
      "GARD:0021134",
      "MEDGEN:1663334",
      "OMIM:245570",
      "OMIM:613971",
      "Orphanet:289266",
      "UMLS:C4749281",
      "icd11.foundation:1655554340"
    ],
    "synonyms": [
      "early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation",
      "epilepsy, focal, with speech disorder and with or without impaired intellectual development"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A rare intellectual disability and epilepsy syndrome due to mutation in GRIN2A gene. It is characterized by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalized seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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"
    },
    {
      "id": 29313,
      "label": "GRIN2A-related complex neurodevelopmental disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29312
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028157"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A group of neurological and neurodevelopmental disorders caused by variants in the GRIN2A gene, characterized by a broad spectrum of symptoms including developmental delay or intellectual disability, epilepsy, speech and language impairments, movement disorders, and neuropsychiatric features."
      },
      "child_count": 5,
      "reference_id": "MONDO:1060139"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19725,
      "label": "childhood-onset epilepsy syndrome"
    },
    {
      "id": 29313,
      "label": "GRIN2A-related complex neurodevelopmental disorder"
    }
  ]
}