{
  "id": 18703,
  "label": "intellectual disability syndrome due to a DYRK1A point mutation",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018733",
  "properties": {
    "xrefs": [
      "GARD:0021926",
      "MEDGEN:1826160",
      "Orphanet:464311",
      "UMLS:C5679991"
    ],
    "synonyms": [
      "DYRK1A-related intellectual disability syndrome due to a point mutation"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 14606,
      "label": "DYRK1A-related intellectual disability syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        16087,
        24323
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070037",
          "GARD:0013527",
          "MEDGEN:1799566",
          "OMIM:614104",
          "Orphanet:464306",
          "UMLS:C5568143"
        ],
        "synonyms": [
          "MRD7",
          "autosomal dominant intellectual disability 7",
          "intellectual disability, autosomal dominant type 7",
          "mental retardation, autosomal dominant type 7",
          "autosomal dominant non-syndromic intellectual disability 7",
          "intellectual disability, autosomal dominant 7",
          "mental retardation, autosomal dominant 7"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of DYRK1A on chromosome 21q22.13."
      },
      "child_count": 6,
      "reference_id": "MONDO:0013578"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 14606,
      "label": "DYRK1A-related intellectual disability syndrome"
    }
  ]
}