{
  "id": 14679,
  "label": "neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013655",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 23914,
      "label": "intellectual disability, autosomal dominant",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        3324,
        24226
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "OMIMPS:156200"
        ],
        "synonyms": [
          "mental retardation, autosomal dominant",
          "autosomal dominant intellectual disability"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 87,
      "reference_id": "MONDO:0100172"
    },
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 23914,
      "label": "intellectual disability, autosomal dominant"
    },
    {
      "id": 29306,
      "label": "GRIN1-related complex neurodevelopmental disorder"
    }
  ]
}