The Orphanet Report Series has amended the list of rare diseases and synonyms, which was first published in December 2012, to include all the synonyms of the rare disease. This exhaustive list of rare diseases and synonyms, is a downloadable PDF annual publication intended to help finding easily the ORPHA codes in the Orphanet nomenclature of rare diseases, for coding uses amongst others. It now contains main names, all the synonyms and acronyms of rare diseases in alphabetical order.
Consult the List of rare diseases and synonyms