Epidemiological Data

Orphanet curates data concerning the epidemiology of rare diseases. Orphanet carries out a systematic survey of literature in order to estimate the prevalence and incidence of rare diseases. The rare diseases epidemiology dataset includes the preferred name and Orpha number of the diseases, groups of or subtypes, and their 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 the preferred name and Orpha number of the diseases, their type of inheritance, interval average age of onset and age of death.

Rare disease epidemiology

Natural history



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