{
  "id": 21169,
  "label": "fragile X syndrome type 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0023179",
  "properties": {
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 11546,
      "label": "fragile X syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:14261",
          "GARD:0006464",
          "ICD9:759.83",
          "MEDGEN:8912",
          "MESH:D005600",
          "MedDRA:10017324",
          "NANDO:1200692",
          "NANDO:2100224",
          "NANDO:2200840",
          "NCIT:C84717",
          "NORD:1159",
          "OMIM:300624",
          "Orphanet:908",
          "SCTID:613003",
          "UMLS:C0016667",
          "icd11.foundation:1524287677"
        ],
        "synonyms": [
          "FRAXA syndrome",
          "FXS",
          "FraX syndrome",
          "Fragile X syndrome, X-linked dominant",
          "Martin-Bell syndrome",
          "fragile X intellectual disability syndrome",
          "fragile X syndrome",
          "marker X syndrome",
          "X-linked intellectual disability and macroorchidism",
          "X-linked mental retardation and macroorchidism",
          "fra(X) syndrome",
          "fragile 10 intellectual disability syndrome",
          "fragile 10 mental retardation syndrome",
          "fragile 10 premature ovarian failure",
          "fragile 10 syndrome",
          "intellectual disability, X-linked, associated with Marxq28",
          "marker 10 syndrome",
          "mental retardation, X-linked, associated with Marxq28",
          "primary ovarian insufficiency, fragile X-associated"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A genetic syndrome caused by mutations in the FMR1 gene which is responsible for the expression of the fragile X mental retardation 1 protein. This protein participates in neural development. This syndrome is manifested with mental, emotional, behavioral, physical, and learning disabilities."
      },
      "child_count": 8,
      "reference_id": "MONDO:0010383"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 11546,
      "label": "fragile X syndrome"
    }
  ]
}