Epidemiological Data

Orphanet collects and curates data concerning the epidemiology of rare diseases. A systematic survey of the literature is carried out in order to estimate the prevalence and incidence of rare diseases. The rare diseases epidemiology dataset includes rare diseases (ORPHAcode, preferred name, classification level, and typology) with available point prevalence, birth prevalence, lifelong prevalence and incidence, or the number of families reported together with their respective intervals per geographical area. The rare diseases natural history dataset includes rare diseases (ORPHAcode, preferred name, classification level, and typology) with available data related to type of inheritance, interval average age of onset and/or age of death.

Epidemiology of rare diseases

Natural history of rare diseases



Video tutorials


What is the Orphanet nomenclature of rare disorders?




Frequently Asked Questions



Free access products description


Orphanet procedures


Epidemiological data collection in Orphanet


ICD-10 coding rules for rare diseases


Naming rules for the rare disease nomenclature in English


Nomenclature production in national language


Linearisation rules for Orphanet classifications


Orphanet Standard Operating Procedures