Orphanet has recently published an updated document of "Rare disease registries in Europe". The report gathers the information collected by Orphanet so far, regarding systematic collections of data for a specific disease or a group of diseases. The report includes data about EU countries and surrounding countries participating to the Orphanet consortium. The diseases covered by each register are provided with Orpha number which is their identifier in the Orphanet nomenclature.

More information: Rare disease registries in Europe (PDF)