{
  "id": 19643,
  "label": "Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019923",
  "properties": {
    "xrefs": [
      "GARD:0019342",
      "MEDGEN:1843183",
      "Orphanet:96193",
      "UMLS:C5680249"
    ],
    "synonyms": [
      "Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome type 11",
      "Mosaic paternal uniparental disomy of chromosome 11",
      "UPD(11)pat"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 8915,
      "label": "Beckwith-Wiedemann syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16218,
        19480,
        21518
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:5572",
          "GARD:0003343",
          "ICD9:759.89",
          "MEDGEN:2562",
          "MESH:D001506",
          "MedDRA:10050344",
          "NANDO:2200959",
          "NCIT:C34415",
          "NORD:845",
          "OMIM:130650",
          "Orphanet:116",
          "SCTID:81780002",
          "UMLS:C0004903",
          "icd11.foundation:803086260"
        ],
        "synonyms": [
          "BWS",
          "Beckwith-Wiedemann syndrome",
          "Wiedemann-Beckwith syndrome",
          "exomphalos-macroglossia-gigantism syndrome",
          "Beckwith-Wiedemann syndrome chromosome region",
          "EMG syndrome",
          "Wiedemann-Beckwith syndrome (WBS)",
          "exomphalos macroglossia gigantism syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations."
      },
      "child_count": 24,
      "reference_id": "MONDO:0007534"
    },
    {
      "id": 24416,
      "label": "chromosome 11 disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19716
      ],
      "type_id": 0,
      "properties": {
        "definition": "Chromosomal disorder in which chromosome 11 is affected."
      },
      "child_count": 5,
      "reference_id": "MONDO:0700018"
    },
    {
      "id": 24482,
      "label": "uniparental disomy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18950
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:181871",
          "MESH:D024182",
          "NCIT:C85215",
          "UMLS:C0949628"
        ],
        "definition": "A condition characterized by the inheritance of a chromosome pair from one parent and no chromosomal copies from the other parent. It results in developmental abnormalities or rare recessive disorders."
      },
      "child_count": 27,
      "reference_id": "MONDO:0700086"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 8915,
      "label": "Beckwith-Wiedemann syndrome"
    },
    {
      "id": 24416,
      "label": "chromosome 11 disorder"
    },
    {
      "id": 24482,
      "label": "uniparental disomy"
    }
  ]
}