{
  "id": 15645,
  "label": "intellectual disability, autosomal recessive 50",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014649",
  "properties": {
    "xrefs": [
      "DOID:0081213",
      "GARD:0022570",
      "MEDGEN:906893",
      "OMIM:616460",
      "UMLS:C4225319"
    ],
    "synonyms": [
      "EDC3 autosomal recessive non-syndromic intellectual disability",
      "autosomal recessive non-syndromic intellectual disability caused by mutation in EDC3",
      "intellectual developmental disorder, autosomal recessive 50",
      "intellectual disability, autosomal recessive 50",
      "intellectual disability, autosomal recessive type 50",
      "mental retardation, autosomal recessive type 50",
      "MRT50",
      "mental retardation, autosomal recessive 50"
    ],
    "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 EDC3 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"
    }
  ]
}