{
  "data": {
    "__count": 1,
    "__licence": {
      "identifier": "CC-BY-4.0",
      "link": "https://creativecommons.org/licenses/by/4.0",
      "name": "Creative Commons Attribution 4.0 International"
    },
    "results": {
      "Date": "2026-06-23 07:57:58",
      "DisorderGroup": "Disorder",
      "ORPHAcode": 567,
      "OrphanetURL": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567",
      "Preferred term": "22q11.2 deletion syndrome",
      "Prevalence": [
        {
          "PrevalenceClass": "1-9 / 100 000",
          "PrevalenceGeographic": "Europe",
          "PrevalenceQualification": "Value and class",
          "PrevalenceType": "Prevalence at birth",
          "PrevalenceValidationStatus": "Validated",
          "Source": "EUROCAT European surveillance of congenital anomalies 2005-2012[OTHER]",
          "ValMoy": "9.6"
        },
        {
          "PrevalenceClass": "1-5 / 10 000",
          "PrevalenceGeographic": "France",
          "PrevalenceQualification": "Value and class",
          "PrevalenceType": "Prevalence at birth",
          "PrevalenceValidationStatus": "Not yet validated",
          "Source": "8863171[PMID]",
          "ValMoy": "10.3"
        },
        {
          "PrevalenceClass": "1-5 / 10 000",
          "PrevalenceGeographic": "Worldwide",
          "PrevalenceQualification": "Value and class",
          "PrevalenceType": "Prevalence at birth",
          "PrevalenceValidationStatus": "Not yet validated",
          "Source": "21570089[PMID]_ORPHANET",
          "ValMoy": "37.5"
        },
        {
          "PrevalenceClass": "1-5 / 10 000",
          "PrevalenceGeographic": "United States",
          "PrevalenceQualification": "Value and class",
          "PrevalenceType": "Prevalence at birth",
          "PrevalenceValidationStatus": "Validated",
          "Source": "12837874[PMID]",
          "ValMoy": "16.8"
        },
        {
          "PrevalenceClass": "Unknown",
          "PrevalenceGeographic": "Worldwide",
          "PrevalenceQualification": "Class only",
          "PrevalenceType": "Point prevalence",
          "PrevalenceValidationStatus": "Not yet validated",
          "Source": "ORPHANET",
          "ValMoy": "0.0"
        },
        {
          "PrevalenceClass": "1-5 / 10 000",
          "PrevalenceGeographic": "Europe",
          "PrevalenceQualification": "Class only",
          "PrevalenceType": "Point prevalence",
          "PrevalenceValidationStatus": "Validated",
          "Source": "European Medicines Agency 2019[OTHER]",
          "ValMoy": "0.0"
        }
      ],
      "Typology": "Malformation syndrome"
    }
  },
  "datasetCategory": {
    "lang": "en",
    "name": "Epidemiology of rare diseases"
  },
  "parameters": {
    "path": {
      "ORPHAcode": 567
    },
    "query": {}
  },
  "uri": "https://api.orphadata.com/rd-epidemiology/orphacodes/567"
}