{
  "id": 13660,
  "label": "intellectual disability, autosomal recessive 5",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012613",
  "properties": {
    "xrefs": [
      "DOID:0081181",
      "GARD:0022541",
      "MEDGEN:370849",
      "MESH:C567018",
      "OMIM:611091",
      "UMLS:C1970199"
    ],
    "synonyms": [
      "NSUN2 autosomal recessive non-syndromic intellectual disability",
      "autosomal recessive non-syndromic intellectual disability caused by mutation in NSUN2",
      "intellectual disability, autosomal recessive 5",
      "intellectual disability, autosomal recessive type 5",
      "mental retardation, autosomal recessive type 5",
      "MRT5",
      "mental retardation, autosomal recessive 5"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the NSUN2 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19320,
      "label": "autosomal recessive non-syndromic intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2962,
        17944,
        24319
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060308",
          "GARD:0018643",
          "MEDGEN:1826073",
          "OMIMPS:249500",
          "Orphanet:88616",
          "UMLS:C5680181"
        ],
        "synonyms": [
          "autosomal recessive intellectual disability",
          "intellectual disability, autosomal recessive",
          "AR-NSID",
          "NS-ARID",
          "autosomal recessive non-syndromic intellectual disability",
          "mental retardation, autosomal recessive",
          "non-syndromic intellectual disability, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive form of non-syndromic intellectual disability."
      },
      "child_count": 204,
      "reference_id": "MONDO:0019502"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19320,
      "label": "autosomal recessive non-syndromic intellectual disability"
    }
  ]
}