{
  "id": 14675,
  "label": "intellectual disability, autosomal recessive 18",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013651",
  "properties": {
    "xrefs": [
      "DOID:0081190",
      "GARD:0022552",
      "MEDGEN:481895",
      "OMIM:614249",
      "UMLS:C3280265"
    ],
    "synonyms": [
      "MED23 autosomal recessive non-syndromic intellectual disability",
      "autosomal recessive non-syndromic intellectual disability caused by mutation in MED23",
      "intellectual developmental disorder, autosomal recessive 18, with or without epilepsy",
      "intellectual disability, autosomal recessive 18",
      "intellectual disability, autosomal recessive type 18",
      "mental retardation, autosomal recessive type 18",
      "MED23",
      "MRT18",
      "autosomal recessive nonsyndromic intellectual disability-18",
      "autosomal recessive nonsyndromic mental retardation-18",
      "mental retardation, autosomal recessive 18"
    ],
    "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 MED23 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"
    }
  ]
}