Monday, 26 September, 2016

Welcome to Orphadata

The mission of Orphadata is to provide the scientific community with a comprehensive, high-quality and freely-accessible dataset related to rare diseases and orphan drugs, in a reusable format.

For more information on Xml format files, see the user's guide.

See "How the data are produced"

Freely-accessible dataset

Orphanet Rare Diseases Ontology
Disorders, cross referenced with other nomenclatures
Orphanet Classifications


Epidemiological data

Phenotypes associatied with rare disorders

Disorders with their associated genes

Linearisation of disorders

The dataset is a partial extraction of the data stored in Orphanet, which is also accessible at for consultation purposes only.
This freely-accessible dataset is available in seven languages (English, French, German, Italian, Portuguese, Spanish and Dutch).

Datasets available on request

These datasets are available for free on signature of a Data Transfer Agreement for Academia (consult the catalogue).

These datasets are available for a fee on signature of a Data Transfer Agreement for Industry (consult the catalogue).

Textual information

Patient organisations

Expert clinics

Clinical laboratories

Orphan Drugs

Research activities

All products

How to quote

When quoting Orphanet, please use the following format :

Orphanet: an online rare disease and orphan drug data base. © INSERM 1997.
Available on Accessed [date accessed].

When quoting Orphadata, please use the following format:

Orphadata: Free access data from Orphanet. © INSERM 1997.
Available on Data version [e.g.XML data version].

If you wish to use one of our logos, please make a request via the contact form.