Epidemiological Data

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 diseases 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

Orphanet procedures

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

Epidemiological Data
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Here are XSD (XML Schema Definitions) and JPEG representations for this product.

Language	Files	Number	Size	Date

In order to visualise previous versions one can check history at the OrphaData Github

Natural History
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Here are XSD (XML Schema Definitions) and JPEG representations for this product.

Language	Files	Number	Size	Date

In order to visualise previous versions one can check history at the OrphaData Github

Linearisation of disorders
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For analysis purposes, each disorder is attributed to a preferred classification by linking it to the head of classification entity. As some decisions could be made somewhat arbitrarily, we have written a set of rules to make sure attributions are consistent. The methodology can be found here.
Here are XSD (XML Schema Definitions) and JPEG representations for this product.

Language	File	Size	Number	Date

In order to visualise previous versions one can check at the Orphadata Github