{
  "id": 29312,
  "label": "GRIN-related complex neurodevelopmental disorder",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:1060138",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 23791,
      "label": "complex neurodevelopmental disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24488
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017965",
          "MEDGEN:1800189",
          "Orphanet:528084",
          "UMLS:C5568766"
        ],
        "synonyms": [
          "complex neurodevelopmental disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy)."
      },
      "child_count": 15,
      "reference_id": "MONDO:0100038"
    },
    {
      "id": 24226,
      "label": "Mendelian neurodevelopmental disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24270,
        24488
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A neurodevelopmental disorder that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 550,
      "reference_id": "MONDO:0100500"
    }
  ],
  "children": [
    {
      "id": 15926,
      "label": "developmental and epileptic encephalopathy, 46",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18615,
        24182,
        29312
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080456",
          "GARD:0016205",
          "MEDGEN:934654",
          "OMIM:617162",
          "UMLS:C4310687"
        ],
        "synonyms": [
          "DEE46",
          "EIEE46",
          "GRIN2D early infantile epileptic encephalopathy",
          "GRIN2D-related DEE",
          "GRIN2D-related complex neurodevelopmental disorder",
          "GRIN2D-related developmental and epileptic encephalopathy",
          "developmental and epileptic encephalopathy 46",
          "early infantile epileptic encephalopathy caused by mutation in GRIN2D",
          "epileptic encephalopathy, early infantile, 46",
          "epileptic encephalopathy, early infantile, 46; EIEE46",
          "epileptic encephalopathy, early infantile, type 46"
        ],
        "categories": [
          {
            "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 GRIN2D gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014947"
    },
    {
      "id": 24724,
      "label": "GRIN2B-related complex neurodevelopmental disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29312
      ],
      "type_id": 0,
      "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"
      },
      "child_count": 2,
      "reference_id": "MONDO:0700350"
    },
    {
      "id": 29306,
      "label": "GRIN1-related complex neurodevelopmental disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29312
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 3,
      "reference_id": "MONDO:1060123"
    },
    {
      "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"
    }
  ],
  "roots": [
    {
      "id": 23791,
      "label": "complex neurodevelopmental disorder"
    },
    {
      "id": 24226,
      "label": "Mendelian neurodevelopmental disorder"
    }
  ]
}