Saturday, 3 December, 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.


The epidemiological dataset is now available by request only.
Users from Academia can obtain access for free via signature of a data transfer agreement, please see the catalogue (http://www.orphadata.org/cgi-bin/docs/CataloguePdt-Academia.pdf) for more information.
Users from Industry can obtain access for a yearly fee via signature of a data transfer agreement, please see the catalogue (http://www.orphadata.org/cgi-bin/docs/CataloguePdt-Industry.pdf) for more information.

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
(ORDO)
Disorders, cross referenced with other nomenclatures
Orphanet Classifications



SPARQL ENDPOINT
(beta)

Disorders with their associated genes

Phenotypes associatied with rare disorders


Linearisation of disorders



The dataset is a partial extraction of the data stored in Orphanet, which is also accessible at www.orpha.net 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


Epidemiological data



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 http://www.orpha.net. Accessed [date accessed].


When quoting Orphadata, please use the following format:

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


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