{
  "id": 14000,
  "label": "intellectual disability, autosomal dominant 5",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012960",
  "properties": {
    "xrefs": [
      "DOID:0070035",
      "GARD:0012558",
      "MEDGEN:382611",
      "MESH:C567234",
      "OMIM:612621",
      "Orphanet:544254",
      "UMLS:C2675473"
    ],
    "synonyms": [
      "MRD5",
      "SYNGAP1 autosomal dominant non-syndromic intellectual disability",
      "SYNGAP1-related developmental and epileptic encephalopathy",
      "autosomal dominant intellectual disability 5",
      "autosomal dominant non-syndromic intellectual disability caused by mutation in SYNGAP1",
      "epilepsy due to SYNGAP mutations",
      "intellectual disability, autosomal dominant 5",
      "intellectual disability, autosomal dominant type 5",
      "mental retardation, autosomal dominant type 5",
      "SYNGAP1 gene mutation linked to intellectual disability, schizophrenia and autism",
      "SYNGAP1 syndrome",
      "SYNGAP1-related NSID",
      "SYNGAP1-related non-syndromic intellectual disability",
      "autosomal dominant non-syndromic intellectual disability 5",
      "mental retardation, autosomal dominant 5"
    ],
    "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 SYNGAP1 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19724,
      "label": "infantile epilepsy syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16436
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019436",
          "Orphanet:98258"
        ],
        "synonyms": [
          "epilepsy syndrome of infancy",
          "infantile epilepsy syndrome",
          "infantile onset epilepsy syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An epilepsy syndrome that occurs between 28 days to one year of life."
      },
      "child_count": 9,
      "reference_id": "MONDO:0020071"
    },
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19724,
      "label": "infantile epilepsy syndrome"
    },
    {
      "id": 23914,
      "label": "intellectual disability, autosomal dominant"
    }
  ]
}