{
  "id": 8915,
  "label": "Beckwith-Wiedemann syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007534",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 8,
  "parents": [
    {
      "id": 16218,
      "label": "hereditary neoplastic syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        20011,
        20301
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019921",
          "MEDGEN:14326",
          "MESH:D009386",
          "NCIT:C3266",
          "Orphanet:140162",
          "SCTID:699346009",
          "UMLS:C0027672"
        ],
        "synonyms": [
          "cancer syndrome, hereditary",
          "cancer syndromes, hereditary",
          "familial neoplastic syndrome",
          "familial tumor syndrome",
          "familial tumour syndrome",
          "hereditary cancer syndrome",
          "hereditary cancer syndromes",
          "hereditary neoplastic syndrome",
          "hereditary neoplastic syndromes",
          "hereditary tumor syndrome",
          "hereditary tumour syndrome",
          "inherited cancer syndrome",
          "inherited cancer-predisposing syndrome",
          "neoplastic syndrome, hereditary",
          "syndrome, hereditary cancer",
          "syndrome, hereditary neoplastic",
          "syndromes, hereditary cancer",
          "syndromes, hereditary neoplastic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "The inherited predisposition toward getting a tumor."
      },
      "child_count": 351,
      "reference_id": "MONDO:0015356"
    },
    {
      "id": 19480,
      "label": "overgrowth syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20383
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019213",
          "MEDGEN:458929",
          "NCIT:C94828",
          "Orphanet:93460",
          "UMLS:C2986703",
          "icd11.foundation:2113355045"
        ],
        "definition": "A group of syndromes caused by genetic birth defects that may lead to the development of malignancies. It is characterized by a large body size or large body parts at birth, or excessive body growth early in childhood. Representative examples include neurofibromatosis, Beckwith-Wiedemann syndrome, and Sturge-Weber syndrome."
      },
      "child_count": 31,
      "reference_id": "MONDO:0019716"
    },
    {
      "id": 21518,
      "label": "familial hypertrophic cardiomyopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6777,
        6933
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080326",
          "MEDGEN:183649",
          "MESH:D024741",
          "NCIT:C84773",
          "OMIMPS:192600",
          "Orphanet:155",
          "SCTID:471885006",
          "UMLS:C0949658",
          "icd11.foundation:1408928442"
        ],
        "synonyms": [
          "cardiomyopathy, familial hypertrophic",
          "familial hypertrophic cardiomyopathy",
          "familila or idiopathic hypertrophic obstructive cardiomyopathy",
          "hereditary hypertrophic cardiomyopathy",
          "hypertrophic familial cardiomyopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Hypertrophic cardiomyopathy caused by mutations in the genes encoding components of the sarcomere, in the absence of predisposing conditions."
      },
      "child_count": 80,
      "reference_id": "MONDO:0024573"
    }
  ],
  "children": [
    {
      "id": 16985,
      "label": "Beckwith-Wiedemann syndrome due to imprinting defect of 11p15",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8915
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020600",
          "MEDGEN:1842606",
          "Orphanet:231117",
          "UMLS:C5680922"
        ],
        "synonyms": [
          "Beckwith-Wiedemann syndrome due to imprinting defect of type 11p15"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0016475"
    },
    {
      "id": 16986,
      "label": "Beckwith-Wiedemann syndrome due to CDKN1C mutation",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8915
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017160",
          "MEDGEN:1826157",
          "Orphanet:231120",
          "UMLS:C5680918"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0016476"
    },
    {
      "id": 16987,
      "label": "Beckwith-Wiedemann syndrome due to 11p15 microdeletion",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8915,
        17316
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020601",
          "MEDGEN:1826104",
          "Orphanet:231127",
          "UMLS:C5680919"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0016477"
    },
    {
      "id": 16988,
      "label": "Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8915
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020602",
          "MEDGEN:1826105",
          "Orphanet:231130",
          "UMLS:C5680920"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0016478"
    },
    {
      "id": 17042,
      "label": "Beckwith-Wiedemann syndrome due to NSD1 mutation",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8915
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017178",
          "MEDGEN:1825953",
          "Orphanet:238613",
          "UMLS:C5680933"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0016547"
    },
    {
      "id": 19597,
      "label": "Beckwith-Wiedemann syndrome due to 11p15 microduplication",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8915,
        17363
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019308",
          "MEDGEN:1826126",
          "Orphanet:96076",
          "UMLS:C5681581"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0019875"
    },
    {
      "id": 19643,
      "label": "Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8915,
        24416,
        24482
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0019923"
    },
    {
      "id": 21171,
      "label": "Franceschini Vardeu Guala syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8915
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002371",
          "MEDGEN:419814",
          "MESH:C537272",
          "UMLS:C2931463"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0023182"
    }
  ],
  "roots": [
    {
      "id": 16218,
      "label": "hereditary neoplastic syndrome"
    },
    {
      "id": 19480,
      "label": "overgrowth syndrome"
    },
    {
      "id": 21518,
      "label": "familial hypertrophic cardiomyopathy"
    }
  ]
}