Orphanet (Orphadata): rare disease prevalence, codes and genes
Orphanet, the INSERM rare disease knowledge base, through its Orphadata Science API (CC BY 4.0). Finds rare diseases by name, synonym or abbreviation ("Pompe disease", "ALS"), ORPHAcode, orpha.net page, OMIM number or ICD-10/ICD-11 code, with definition, synonyms and Orphanet's mappings to ICD-10, ICD-11, OMIM, MONDO, MeSH, UMLS, MedDRA and GARD. Gives each disease's prevalence, birth prevalence, lifetime prevalence, annual incidence and case counts by area (worldwide, Europe and other regions, 130 countries) with Orphanet's prevalence class, mean value per 100,000, validation status and source PMIDs, plus inheritance and age of onset; and its gene associations with association type, HGNC, Ensembl, UniProt and OMIM identifiers. About 11,600 entities; 6,700 have prevalence data, 4,200 have genes. Orphadata releases twice a year; every answer carries its data version, Orphadata's citation and its AI-use notice.
Try Orphanet (Orphadata): rare disease prevalence, codes and genes now.
Choose an example or ask your own question.
const result = await firecrawl.scrape({
alexandria: {
provider: "orphadata-com",
capability: "rare-diseases/epidemiology",
options: {
disease: "cystic fibrosis",
geography: [
"Europe",
"FR",
],
},
},
});This is a sample shape. Press Run to see live data from Orphanet (Orphadata): rare disease prevalence, codes and genes.
{
"age_of_onset": [
"All ages"
],
"available_geographies": [
"Europe",
"Austria",
"Belgium",
"Brazil",
"Bulgaria",
"China",
"Cyprus",
"Czech Republic",
"Denmark",
"Estonia",
"Finland",
"France",
"Germany",
"Greece",
"Hungary",
"Ireland",
"Italy",
"Latvia",
"Lithuania",
"Luxembourg",
"Malta",
"Netherlands",
"Norway",
"Poland",
"Portugal",
"Romania",
"Russian Federation",
"Slovakia",
"Slovenia",
"Spain",
"Sweden",
"United Kingdom"
],
"disease": {
"level": "disorder",
"name": "Cystic fibrosis",
"orphacode": 586,
"source_url": "https://www.orpha.net/en/disease/detail/586",
"type": "Disease"
},
"inheritance": [
"Autosomal recessive"
],
"license": {
"ai_notice": "Orphanet/Orphadata data was used to produce this result. A result based on it may not be a true reflection of the Orphanet/Orphadata data, and Orphanet is not responsible for the quality of outputs based on its data.",
"attribution": "Orphadata Science: Free access data from Orphanet. © INSERM 1999. Available on https://sciences.orphadata.com/. Data version 2026-06-23.",
"changes": "Restructured by Firecrawl: English field names, parsed mapping relations, prevalence values and sources, and ISO 3166 country codes. Values are as Orphanet publishes them.",
"name": "CC BY 4.0",
"url": "https://creativecommons.org/licenses/by/4.0/"
},
"matched_on": "name",
"observed_at_ms": 1793382787373,
"record_count": 4,
"records": [
{
"class": "1-5 / 10 000",
"count": null,
"country_code": null,
"expert_opinion": false,
"geography": "Europe",
"orphanet_estimate": true,
"other_sources": [],
"per_100k": 11.1319,
"pmids": [],
"qualification": "value_and_class",
"type": "point_prevalence",
"validated": true
},
{
"class": "1-5 / 10 000",
"count": null,
"country_code": "FR",
"expert_opinion": false,
"geography": "France",
"orphanet_estimate": true,
"other_sources": [],
"per_100k": 12.1416,
"pmids": [
"25122143"
],
"qualification": "value_and_class",
"type": "point_prevalence",
"validated": true
},
{
"class": "1-5 / 10 000",
"count": null,
"country_code": null,
"expert_opinion": false,
"geography": "Europe",
"orphanet_estimate": true,
"other_sources": [],
"per_100k": 19.3912,
"pmids": [],
"qualification": "value_and_class",
"type": "birth_prevalence",
"validated": true
},
{
"class": "1-5 / 10 000",
"count": null,
"country_code": "FR",
"expert_opinion": false,
"geography": "France",
"orphanet_estimate": false,
"other_sources": [],
"per_100k": 21.15,
"pmids": [
"25122143"
],
"qualification": "value_and_class",
"type": "birth_prevalence",
"validated": true
}
],
"source_updated_at": "2026-06-23",
"source_url": "https://www.orpha.net/en/disease/detail/586",
"total_records": 62
}Data from Orphanet (Orphadata Science, © INSERM 1999), licensed CC BY 4.0. Cite Orphadata with its data version. Results built on this data may not be a true reflection of Orphanet data, and Orphanet is not responsible for their quality. (https://sciences.orphadata.com/faq/)
