What is the Orphanet nomenclature of rare disorders (tutorial)
This document has been translated into Polish (2017) and Spanish (2018) and German (2019) and Japanese (2019) and Portuguese (2021) and Russian (2021)
Orphadata Science, comprising the Orphanet Scientific Knowledge base and ontologies and the Orphanet nomenclature of rare diseases, is an ELIXIR Core Data Resources.
ELIXIR is an infrastructure that unites Europe’s leading life science organisations in managing and safeguarding the increasing volume of data being generated by publicly funded research. The ELIXIR Core Data Resources serve as a mark of the highest quality in infrastructure service provision and play a critical role in the long-term preservation of life science data.
