{
  "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": 140874,
      "OrphanetURL": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140874",
      "Preferred term": "Joubert syndrome",
      "Prevalence": [
        {
          "PrevalenceClass": "1-9 / 100 000",
          "PrevalenceGeographic": "Worldwide",
          "PrevalenceQualification": "Value and class",
          "PrevalenceType": "Prevalence at birth",
          "PrevalenceValidationStatus": "Validated",
          "Source": "18054307[PMID]_17377524[PMID]_20301500[PMID]_20615230[PMID]_[EXPERT]",
          "ValMoy": "1.1"
        },
        {
          "PrevalenceClass": "1-9 / 100 000",
          "PrevalenceGeographic": "United States",
          "PrevalenceQualification": "Value and class",
          "PrevalenceType": "Prevalence at birth",
          "PrevalenceValidationStatus": "Validated",
          "Source": "20615230[PMID]",
          "ValMoy": "1.0"
        },
        {
          "PrevalenceClass": "1-9 / 100 000",
          "PrevalenceGeographic": "Netherlands",
          "PrevalenceQualification": "Value and class",
          "PrevalenceType": "Prevalence at birth",
          "PrevalenceValidationStatus": "Validated",
          "Source": "18054307[PMID]",
          "ValMoy": "1.0"
        },
        {
          "PrevalenceClass": ">1 / 1000",
          "PrevalenceGeographic": "North America",
          "PrevalenceQualification": "Value and class",
          "PrevalenceType": "Point prevalence",
          "PrevalenceValidationStatus": "Validated",
          "Source": "22152675[PMID]",
          "ValMoy": "666.67"
        },
        {
          "PrevalenceClass": "Unknown",
          "PrevalenceGeographic": "Worldwide",
          "PrevalenceQualification": "Class only",
          "PrevalenceType": "Point prevalence",
          "PrevalenceValidationStatus": "Not yet validated",
          "Source": "ORPHANET",
          "ValMoy": "0.0"
        }
      ],
      "Typology": "Malformation syndrome"
    }
  },
  "datasetCategory": {
    "lang": "en",
    "name": "Epidemiology of rare diseases"
  },
  "parameters": {
    "path": {
      "ORPHAcode": 140874
    },
    "query": {}
  },
  "uri": "https://api.orphadata.com/rd-epidemiology/orphacodes/140874"
}