{
  "id": 24724,
  "label": "GRIN2B-related complex neurodevelopmental disorder",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0700350",
  "properties": {
    "xrefs": [
      "GARD:0028024"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A complex neurodevelopmental disorder caused by a variation in the GRIN2B gene"
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "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": 14539,
      "label": "intellectual disability, autosomal dominant 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23914,
        24724
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070036",
          "GARD:0012851",
          "MEDGEN:462761",
          "OMIM:613970",
          "Orphanet:589547",
          "UMLS:C3151411"
        ],
        "synonyms": [
          "GRIN2B encephalopathy",
          "GRIN2B-related neurodevelopmental disorder",
          "GRIN2B autosomal dominant non-syndromic intellectual disability",
          "GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder",
          "MRD6",
          "autosomal dominant non-syndromic intellectual disability caused by mutation in GRIN2B",
          "intellectual developmental disorder, autosomal dominant 6, with or without seizures",
          "intellectual disability, autosomal dominant 6",
          "intellectual disability, autosomal dominant type 6",
          "mental retardation, autosomal dominant type 6",
          "mental retardation, autosomal dominant 6",
          "mental retardation, autosomal dominant 6, with or without seizures"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIN2B gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013509"
    },
    {
      "id": 15504,
      "label": "developmental and epileptic encephalopathy, 27",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18257,
        23814,
        24724
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080444",
          "GARD:0016063",
          "MEDGEN:863753",
          "OMIM:616139",
          "UMLS:C4015316"
        ],
        "synonyms": [
          "DEE27",
          "EIEE27",
          "GRIN2B early infantile epileptic encephalopathy",
          "developmental and epileptic encephalopathy 27",
          "early infantile epileptic encephalopathy caused by mutation in GRIN2B",
          "epileptic encephalopathy, early infantile, 27",
          "epileptic encephalopathy, early infantile, type 27"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GRIN2B gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014505"
    }
  ],
  "roots": [
    {
      "id": 29312,
      "label": "GRIN-related complex neurodevelopmental disorder"
    }
  ]
}