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FindZebra"  info

Meta search-engine for orphan diseases / rare diseases.

Finnish heritage disease

A Finnish heritage disease is a genetic disease or disorder that is significantly more common in people whose ancestors were ethnic Finns, natives of Finland and Sweden. About 40 rare diseases are regarded as Finnish heritage diseases. The diseases are not restricted to Finns; they are genetic diseases with far wider distribution in the world, but due to founder effects and genetic isolation they are more common in Finns. (WIKIPEDIA)

Genetic and Rare Diseases Information Center

The database GARD is a service by ORDR (Office of Rare Diseases Research) and by NHGRI (National Human Genome Research Institute) - both belong to the NIH.

Genetics Home Reference

Genetics Home Reference provides consumer-friendly information about the effects of genetic variations on human health.

MalaCards - Human Disease Database"  info

MalaCards is an integrated database of human maladies and their annotations, modeled on the architecture and richness of the popular GeneCards database of human genes. The MalaCards disease and disorders database is organized into "disease cards", each integrating prioritized information, and listing numerous known aliases for each disease, along with a variety of annotations, as well as inter-disease connections, empowered by the GeneCards relational database, searches, and GeneAnalytics set-analyses. Annotations include: symptoms, drugs, articles, genes, clinical trials, related diseases/disorders and more. An automatic computational information retrieval engine populates the disease cards, using remote data, as well as information gleaned using the GeneCards platform to compile the disease database. The MalaCards disease database integrates both specialized and general disease lists, including rare diseases, genetic diseases, complex disorders and more.

National Organization for Rare Disorders

This site provides a database about rare diseases.

Online Mendelian Inheritance in Man"  info

Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders, with links to literature references, sequence records, maps, and related databases. It is based on the book, Mendelian Inheritance in Man. The online version is updated daily.

Orphanet"  info

Compilation of information on orphan diseases.

Rare Metabolic Diseases Database"  info

The RAMEDIS system is a platform independent, web-based information system for rare metabolic diseases based on filed case reports. It was developed in close cooperation with clinical partners to allow them to collect information on rare metabolic diseases with extensive details, e.g. about occurring symptoms, laboratory findings, therapy and molecular data.


Compilation of rare bleeding and coagulation disorders.


Database - provided by EMA (European Medicines Agency) about drugs for orphan diseases.

Rare diseases in Ashkenazi Jews

Compilation of Genetic disorders in Ashkenazi Jews. (WIKIPEDIA)


Collection of approximately 7000 rare diseases that affect more than 300 million people worldwide.

Rare Diseases Human Biospecimens / Biorepositories

Rare Disease-HUB (RD-HuB) of the Office of Rare Diseases Research (ORDR). This Website contains a searchable database of biospecimens collected, stored, and distributed by biorepositories in the United States and around the globe.

Rare Disease Database of the Swedish National Board of Health and Welfare

Database about rare diseases, provided by The Swedish Information Centre for Rare Diseases


Overview in Wikipedia about rare diseases.