{
  "id": 29313,
  "label": "GRIN2A-related complex neurodevelopmental disorder",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:1060139",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 29312,
      "label": "GRIN-related complex neurodevelopmental disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        23791,
        24226
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028156"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A group of neurological and neurodevelopmental disorders caused by pathogenic variants in genes encoding subunits of the N-methyl-D-aspartate (NMDA) receptor, including GRIN1, GRIN2A, GRIN2B, and GRIN2D. These disorders are associated with a spectrum of symptoms such as developmental delay, intellectual disability, epilepsy, movement disorders, speech and language impairment, and neuropsychiatric features. The clinical presentation and severity vary depending on the specific gene and mutation involved."
      },
      "child_count": 8,
      "reference_id": "MONDO:1060138"
    }
  ],
  "children": [
    {
      "id": 10734,
      "label": "Landau-Kleffner syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        19725,
        29313
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2538",
          "EFO:1001010",
          "GARD:0006855",
          "MEDGEN:79465",
          "MESH:D018887",
          "MedDRA:10052075",
          "MedDRA:10052083",
          "NANDO:1200602",
          "NCIT:C84806",
          "Orphanet:98818",
          "SCTID:230438007",
          "UMLS:C0282512",
          "icd11.foundation:348544271"
        ],
        "synonyms": [
          "LKS",
          "Landau-Kleffner syndrome",
          "acquired epileptic aphasia",
          "FESD",
          "Rolandic epilepsy, intellectual disability, and speech dyspraxia, autosomal dominant",
          "Rolandic epilepsy, mental retardation, and speech dyspraxia, autosomal dominant",
          "acquired aphasia with convulsive disorder",
          "acquired epileptiform aphasia",
          "aphasia, acquired, with epilepsy",
          "benign epilepsy of childhood with centrotemporal spikes",
          "continuous Spike and waves during slow-Wave sleep syndrome",
          "epilepsy, focal, with speech disorder and with or without impaired intellectual development",
          "epilepsy, focal, with speech disorder and with or without intellectual disability",
          "epilepsy, focal, with speech disorder and with or without mental retardation"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare form of epileptic encephalopathy with spike-wave activation in sleep (EE-SWAS) characterized by various combinations of acquired cognitive, language, behavioral, and motor deficits associated with marked spike- and- wave activation in sleep. In Landau-Kleffner syndrome, receptive language is mainly affected, with an acquired auditory verbal agnosia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009509"
    },
    {
      "id": 17644,
      "label": "early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19725,
        29313
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017325"
    },
    {
      "id": 29314,
      "label": "GRIN2A-related developmental and/or epileptic encephalopathy with spike-wave activation in sleep",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        25085,
        29313
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028158"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any developmental and/or epileptic encephalopathy with spike-wave activation in sleep in which the cause of the disease is a variation in GRIN2A gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:1060140"
    },
    {
      "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"
    },
    {
      "id": 29316,
      "label": "GRIN2A-related self-limited epilepsy with centrotemporal spikes",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8695,
        29313
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028160"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any self-limited epilepsy with centrotemporal spikes in which the cause of the disease is a variation in GRIN2A gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:1060142"
    }
  ],
  "roots": [
    {
      "id": 29312,
      "label": "GRIN-related complex neurodevelopmental disorder"
    }
  ]
}