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Orphanet Rare Diseases Scraper

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Orphanet Rare Diseases Scraper

Orphanet Rare Diseases Scraper

Pull rare disease records from Orphanet and Orphadata by ORPHAcode. Returns the preferred name, synonyms, disorder group, clinical definition, plus mappings to ICD-10, ICD-11, OMIM, UMLS, and MeSH. Useful for terminology mapping, health record enrichment, and rare disease research.

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ParseForge

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๐Ÿงฌ Orphanet Rare Diseases Scraper

๐Ÿš€ Pull structured rare-disease records in seconds. Turn Orphanet ORPHAcodes into clean rows with names, synonyms, definitions, and cross-references to ICD-10, ICD-11, OMIM, UMLS, MeSH, MedDRA, and MONDO.

Orphanet is the reference portal for rare diseases and orphan drugs, and Orphadata is its open data service. This Actor reads the keyless Orphadata cross-referencing API and returns one tidy record per rare disease, including every terminology mapping that Orphanet publishes for that code.

Coverage spans the full Orphanet nomenclature: more than 11,400 ORPHAcodes covering disorders, groups of disorders, and subtypes. Each record carries the preferred term, known synonyms, a clinical definition where available, the disorder group and typology, the last update date, and the cross-references that let you join Orphanet data to ICD-10, ICD-11, OMIM, UMLS, MeSH, MedDRA, and MONDO.

๐ŸŽฏ Target Audience๐Ÿ’ก Primary Use Cases
Bioinformaticians and data scientistsBuilding rare-disease terminology maps
Health-tech and EHR teamsEnriching patient records with standard codes
Pharma and clinical research groupsOrphan-drug and indication research
Medical ontology and knowledge-graph buildersLinking ORPHAcodes across vocabularies

๐Ÿ“‹ What the Orphanet Rare Diseases Scraper does

  • Reads single ORPHAcodes you supply, or pulls the latest codes straight from the Orphadata list endpoint.
  • Returns the preferred term, synonyms, disorder group, typology, and clinical definition.
  • Extracts cross-references to ICD-10, ICD-11, OMIM, UMLS, MeSH, MedDRA, and MONDO.
  • Keeps the full raw cross-reference list with mapping relations and ICD browser links.
  • Works in nine languages for preferred terms, synonyms, and definitions.

๐Ÿš€ How to use

  1. Sign up for a free Apify account with our referral link.
  2. Open the Orphanet Rare Diseases Scraper.
  3. Enter ORPHAcodes, or leave the list empty to pull records automatically.
  4. Pick a language and set how many records you want.
  5. Run the Actor and collect your dataset.
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๐Ÿ’ก Pro Tip: browse the complete ParseForge collection.

โš ๏ธ Disclaimer: independent tool, not affiliated with Orphanet or Orphadata. Only publicly available data collected.

๐Ÿ†˜ Need Help?

If you hit a bug, have questions about setup, or need a scraper we haven't built yet, open our contact form or write to parseforge@protonmail.com. We also take on paid custom data projects.

For faster answers, join our Discord. It's the best place to get support and suggest new actors.