‘Tool-Kit’ of Orphanet Resources

Workshop Presentation on the Orphanet Nomenclature

Key Resources for ERN Stakeholders:
Standard procedure and guide for the coding with Orphacodes Expert Resource: “Standard procedure and guide for the coding with Orphacodes” (Deliverable of RD-ACTION WP5, led by DIMDI)
Letter of invitation-Orphanet Formal letter sent to all ERNs in June 2017, inviting collaboration with Orphanet
User_Guide_Curation_Platform A How-To Guide to help ERNs and rare disease experts to engage with the new Orphanet Knowledge Management System, to improve the database for any given disease/group of disease
Register Your Activity Orphanet Suggestions of information for ERNs to collect from their HCPs, data which can then be represented via the Orphanet database of Resources
Orphanet useful_links A full list of important Orphanet links


Why participate to the new Orphanet Curation Platform?
  • The dedicated site for the new Orphanet Curation Platform (aka the Knowledge Management Platform) is  https://curation.orphanet.org
  • Presentation from the RD-ACTION Workshop (25th and 26th April 2017): Orphanet Knowledge Management System
  • The Orphanet curation platform (OCP) is a community-driven knowledge curation platform for rare disorders based on Orphanet scientific content
  • It allows users (the wider expert community) to propose corrections or modifications for each entry and to meet virtually.
  • Changes validated in the OCP will be incorporated to the Orphanet database and ultimately to the Orphanet Rare Disease Ontology (ORDO).
  • The OCP creates an interactive knowledge curation process that enables input of new knowledge in Orphanet by ‘expert-crowd sourcing’, significantly reducing the resource intense curation processes while maintaining curatorial control over the high quality of the Orphanet data.
  • Interested in contributing? Read the Dedicated Guidance Document – User_Guide_Curation_Platform


Orphanet Procedural Documents

The full range of Procedural Documents is available here – these include the following, and much more:



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