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.
What is the Orphanet nomenclature of rare disorders?
Free access products description
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