{
  "id": 18661,
  "label": "symptomatic form of fragile X syndrome in female carrier",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018670",
  "properties": {
    "xrefs": [
      "GARD:0017783",
      "MEDGEN:1814467",
      "Orphanet:449291",
      "UMLS:C5681104"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005039",
        "name": "reproductive system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ]
  },
  "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"
    },
    {
      "id": 11848,
      "label": "premature ovarian failure 1",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19578
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080857",
          "GARD:0002811",
          "ICD9:256.39",
          "MEDGEN:1644269",
          "OMIM:311360",
          "Orphanet:642691",
          "UMLS:C4552079"
        ],
        "synonyms": [
          "ovarian failure, premature",
          "FMR1 primary ovarian failure",
          "fragile x-associated primary ovarian insufficiency",
          "premature ovarian failure 1",
          "premature ovarian failure type 1",
          "primary ovarian failure caused by mutation in FMR1",
          "FMR1-related premature ovarian failure",
          "FMR1-related primary ovarian insufficiency",
          "Pof1",
          "familial premature ovarian failure",
          "fragile X-associated primary ovarian insufficiency",
          "hypergonadotropic ovarian failure, X-linked",
          "idiopathic familial premature ovarian failure",
          "premature ovarian failure, X-linked"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Any primary ovarian failure in which the cause of the disease is a mutation in the FMR1 gene."
      },
      "child_count": 1,
      "reference_id": "MONDO:0010706"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 11546,
      "label": "fragile X syndrome"
    },
    {
      "id": 11848,
      "label": "premature ovarian failure 1"
    }
  ]
}