{
  "id": 15972,
  "label": "intellectual disability, autosomal recessive 58",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014996",
  "properties": {
    "xrefs": [
      "DOID:0081220",
      "GARD:0013361",
      "MEDGEN:934608",
      "OMIM:617270",
      "UMLS:C4310641"
    ],
    "synonyms": [
      "ELP2 autosomal recessive non-syndromic intellectual disability",
      "MRT58",
      "autosomal recessive non-syndromic intellectual disability caused by mutation in ELP2",
      "intellectual developmental disorder, autosomal recessive 58",
      "intellectual disability, autosomal recessive 58",
      "intellectual disability, autosomal recessive type 58",
      "mental retardation, autosomal recessive 58",
      "mental retardation, autosomal recessive type 58",
      "ELP2-related disorder",
      "autosomal recessive intellectual disability 58"
    ],
    "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 ELP2 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"
    }
  ]
}