{
  "id": 29306,
  "label": "GRIN1-related complex neurodevelopmental disorder",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:1060123",
  "properties": {
    "xrefs": [
      "GARD:0028154"
    ],
    "synonyms": [
      "GRIN1-related developmental and epileptic encephalopathy",
      "GRIN1-related neurodevelopmental disorder"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A neurodevelopmental disorder caused by variation in the GRIN1 gene. It is characterized by mild-to-profound developmental delay/intellectual disability (DD/ID) in all affected individuals. Other common manifestations are epilepsy, muscular hypotonia, movement disorders, spasticity, feeding difficulties, and behavior issues. A subset of individuals show a malformation of cortical development consisting of extensive and diffuse bilateral polymicrogyria."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "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": 14679,
      "label": "neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23914,
        29306
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070038",
          "GARD:0013686",
          "MEDGEN:481912",
          "OMIM:614254",
          "UMLS:C3280282"
        ],
        "synonyms": [
          "GRIN1 autosomal dominant non-syndromic intellectual disability",
          "MRD8",
          "NDHMSD",
          "autosomal dominant intellectual disability 8",
          "autosomal dominant non-syndromic intellectual disability caused by mutation in GRIN1",
          "intellectual disability, autosomal dominant 8",
          "intellectual disability, autosomal dominant type 8",
          "mental retardation, autosomal dominant 8",
          "mental retardation, autosomal dominant 8, formerly",
          "mental retardation, autosomal dominant type 8",
          "neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant",
          "autosomal dominant non-syndromic intellectual disability 8"
        ],
        "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 GRIN1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013655"
    },
    {
      "id": 22027,
      "label": "developmental and epileptic encephalopathy 101",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23814,
        29306
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070387",
          "GARD:0025626",
          "MEDGEN:1805172",
          "OMIM:619814",
          "UMLS:C5676955"
        ],
        "synonyms": [
          "DEE101",
          "developmental and epileptic encephalopathy 101"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030727"
    },
    {
      "id": 23714,
      "label": "neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24319,
        29306
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0009300",
          "GARD:0027989",
          "MEDGEN:1646665",
          "OMIM:617820",
          "UMLS:C4693325"
        ],
        "synonyms": [
          "neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive",
          "NDHMSR"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0060629"
    }
  ],
  "roots": [
    {
      "id": 29312,
      "label": "GRIN-related complex neurodevelopmental disorder"
    }
  ]
}