Find information or help

Below is a non-exhaustive list of organisations and online portals providing information on rare diseases including definitions, causes, treatments, and publications for patients, families and professionals in the field.

Reference databases


Orphanet is a multi-lingual reference portal on rare diseases and orphan drugs, providing information on over 6,000 diseases. It offers a wide range of services, including an encyclopedia of rare diseases, a database of services available in different countries, and an inventory of orphan medicinal products.


PubMed provides access to more than 21 million MEDLINE citations, life science journals, and links to many sites providing full text articles free of charge.


National Organization for Rare Disorders (NORD)

NORD, a US not-for-profit organisation, is a unique federation of voluntary rare disease organisations. It is dedicated to helping those affected by rare diseases and assisting organisations that serve them.

Disease InfoSearch

Disease InfoSearch is an online search tool and database of resources for genetic conditions and a repertory of disease-specific advocacy organisations in the Genetic Alliance network.

Genetics Home Reference

Genetics Home Reference, produced by the US National Library of Medicine, provides information on more than 650 genetic conditions and the genes or chromosomes related to them.

Find help

The following national and regional organisations provide impartial information and counselling on rare diseases and disabilities for rare disease patients, their families, and professionals in the field.





Center for Rare Diseases and Disabilities


Maladies Rares Info Services



ISS (Istituto Superiore di Sanità)

UNIAMO (Federazione Italiana Malattie Rare)

Latin America

GEISER (Grupo de Enlace, Investigacion y Soporte Enfermedades Raras)


Frambu Center for Rare Disorders


Linha Rara


FEDER SIO (Servicio de Informacia y Orientacion)


Swedish Information Center for Rare Diseases


CLIMB (Metabolic Diseases, UK)


Genetic and Rare Diseases Information Center (GARD)

Find a patient organisations or others affected

After a rare disease diagnosis, many people seek patient organisations or groups. They not only find specific information about their disease, but also comfort in knowing that they are not alone. The following websites may help you to find a support group and break the isolation.



Orphanet support groups search by disease and country

Nakos - Nationale Kontakt und Informationsstelle zur Anregung und Unterstützung von Selbsthilfegruppen


National Organization for Rare Disorders (NORD)

Alphabetical list of disease specific patient organisations

NIH Directory of Health Organizations

Search by disease as well as a Health Hotlines


Contact a Family (CAF)

CAF provides an A-Z of conditions as well as medical information on disabilities and rare disorders and details of support groups.

Orphan drugs

An orphan drug is a pharmaceutical agent that has been developed specifically to treat a rare medical condition, the condition itself being referred to as an orphan disease.

The EMA (European Medicines Agency) in the EU and the FDA in the US are both government agencies which evaluate medicinal products. On their websites you’ll find more information concerning the designation of medicines for rare diseases.

EMA (European Medicines Agency)

FDA (Food and Drug Administration)

National Alliances

A national rare disease alliance unites all rare disease organisations in a particular country.

Consult National Alliances for rare disease patient groups in Europe and worldwide.

European or International Networks

Federations and networks provide a platform for exchanging experiences and information on specific diseases or group of diseases.

Consult EURORDIS member organisations that are federations or networks on a European or international level.

To find a patient group for your disease search our member patient organisations by country. You can also consult our list of national rare disease alliances which serves to bring together all the many rare disease organisations in a particular country.


Ask your doctor

EURORDIS cannot respond to questions concerning the medical aspects of a rare disease. EURORDIS does not employ qualified medical personnel or information specialists to give medical advice, diagnose illness, or offer referrals.

We strongly recommend that you seek the advice of your health care provider with questions regarding medical care.

Lastly, if you still need help email us at


Page created: 19/08/2009
Page last updated: 26/09/2016
The voice of rare disease patients in EuropeEURORDIS The international voice of people living with rare diseases, Rare Diseases International is a EURORDIS initiativeRare Disease International Bringing together patients, families and experts to share experiences in a moderated multi-language forum. RareConnect The Rare Barometer Programme is a EURORDIS initiative that carries out surveys to transform rare disease patients' experiences into figures and facts that can be shared with decision-makers.Rare Barometer An international awareness raising campaign taking place on the last day of February each year, Rare Disease Day is a EURORDIS initiativeRare Disease Day Join the largest gathering of rare disease stakeholders across Europe, at the biennial European Conference on Rare Diseases and Orphan Products. ECRD is a EURORDIS initiativeEuropean Conference on Rare Diseases