{
  "id": 15858,
  "label": "intellectual disability, autosomal recessive 54",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014876",
  "properties": {
    "xrefs": [
      "DOID:0081216",
      "GARD:0022573",
      "MEDGEN:934722",
      "OMIM:617028",
      "UMLS:C4310755"
    ],
    "synonyms": [
      "MRT54",
      "TNIK autosomal recessive non-syndromic intellectual disability",
      "autosomal recessive non-syndromic intellectual disability caused by mutation in TNIK",
      "intellectual developmental disorder 54",
      "intellectual disability, autosomal recessive 54",
      "intellectual disability, autosomal recessive type 54",
      "mental retardation, autosomal recessive 54",
      "mental retardation, autosomal recessive type 54"
    ],
    "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 TNIK 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"
    }
  ]
}