Rare disease database search

Rare Diseases ResourcesA collection of resources on topics of interest to the rare disease community, including rare disease social networks, online medical reference Web sites, rare disease events, and more.

Basic Information

Medical and Science Glossaries

The following glossaries contain definitions to terms related to cancer, rare and/or genetic diseases, clinical research, and general health topics.

FDA Office of Orphan Products Development (OOPD)

The FDA Office of Orphan Products Development (OOPD) mission is to advance the evaluation and development of products (drugs, biologics, devices, or medical foods) that demonstrate promise for the diagnosis and/or treatment of rare diseases or conditions. In fulfilling that task, OOPD evaluates scientific and clinical data submissions from sponsors to identify and designate products as promising for rare disease and to further advance scientific development of such promising medical products. The office also works on rare disease issues with the medical and research communities, professional organizations, academia, governmental agencies, industry, and rare disease patient groups.

ORDR Rare Disease Day

Rare Disease Day was established to raise awareness with the public about rare diseases, the challenges encountered by those affected, the importance of research to develop diagnostics and treatments, and the impact of these diseases on patients' lives.

Rare Diseases and Related Terms

A searchable list of almost 7, 000 rare diseases with links to information from federally supported databases and information sources.

IOM Report-Rare Diseases and Orphan Products: Accelerating Research and Development

Rare diseases collectively affect millions of Americans of all ages. They often are serious and life altering; many are life threatening or fatal. Because each rare disease affects a relatively small population, however, it can be challenging to develop drugs and medical devices to prevent, diagnose, and treat these conditions. We still lack even a basic understanding of the cause or underlying molecular mechanisms of many rare diseases. To help in accelerating rare diseases research and product development, the National Institutes of Health (NIH), with support from the Food and Drug Administration (FDA), asked the Institute of Medicine (IOM) to examine the opportunities for and obstacles in developing drugs and medical devices for treating rare diseases.

Swedish Rare Disease Database

The Swedish National Board of Health and Welfare publishes a database about rare diseases. The information is available in English.

In-depth Information


European database dedicated to information on rare diseases and orphan drugs; it aims to improve management and treatment of genetic, auto-immune or infectious rare diseases, rare cancers, or not yet classified rare diseases.

National Center for Biotechnology Information (NCBI)

Information about NCBI public databases, research in computational biology, software tools for analyzing genome data, and biomedical information.


Access to more than 16 million MEDLINE citations, life science journals, and links to many sites providing full text articles.

Rare Disease Networks

MED-21. Spontaneous intramural small bowel hemorrhage: a rare complication of anti-coagulation.(Section on Internal Medicine): An article from: Southern Medical Journal
Book (Southern Medical Association)

Popular Q&A

What disease was rare 50 years ago but is a common killer today?

I think Diabetes which was uncommon 50 years ago, has become a 'Silent Killer' today. With more and more people succumbing to this deadly disease, this might turned out in epidemic proportion in India by 2020,as per WHO's prediction. As Diabetes affects lung,eye,kidney and foot,people are falling prey due to liftstyle change, stress and other factors and more and more people carrying this disease without their knowing it.

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