Rare disease databases

Databases dedicated to providing disease descriptions, genetic testing & genetic mutations



Orphanet is the reference portal on rare diseases and orphan drugs, providing information on aver 6,000 diseases. It offers a wide range of services, including an encyclopaedia, a database of services, and an inventory of orphan drugs. The review articles of the encyclopaedia are written by experts and pass through a peer-reviewed process, controlled by an international editorial board. The database of services provides information on specialised clinics and centres of expertise, clinical laboratories, research projects, clinical trials, registries, networks, and patient support groups. All the information, collected in about 40 countries, is validated by national scientific committees, and regularly updated with a yearly review. The database is also submitted to a permanent control to ensure the quality of the data online. The inventory of orphan drugs includes substances which have been granted an orphan designation from EMA (European Medicines Agency), drugs with a marketing authorisation in Europe, in the United States, Japan, Australia and some other countries. Available in 7 languages (French, English, Italian, German, Spanish, Portuguese and Dutch), Orphanet is funded by many sponsors, including the French Ministry of Health and the European Commission.



(Online Mendelian Inheritance in Man) is a catalog of human genes and genetic disorders, with a specific focus on their relationship. Initiated in the early 1960s by the geneticist Victor A. McKusick, it was developed for the Web in 1995 thanks to a partnership with the National Center for Biotechnology Information (NCBI), in the U.S. Intended for use primarily by physicians and other professionals, it is freely open to the public. OMIM contains more than 20,000 entries including all known mendelian disorders. Each one presents full-text overviews of genes and genetic phenotypes, particularly disorders, including clinical synopsis and references to the cited articles. Each entry has a specific number which helps linking from other sources, like Orphanet. Links to many databases, including PubMed and genetic resources are also provided.


Gene Reviews


GeneReviews is a knowledge database of genetic disorders focusing on the use of molecular genetic testing in patient diagnosis, management, and genetic counseling. More than 500 disease descriptions, including information on diagnosis, clinical aspects, management and genetic counseling, written by international experts, and regularly updated, are available on the website. Funded by the National Institutes of Health (NIH), in the U.S., GeneReviews is part of the GeneTests website, which also includes a directory of U.S. and international laboratories specialized in molecular genetic, cytogenetic or biochemical testing for inherited disorders, and a directory of genetic counseling clinics. Developed primarily for health professionals, the website is freely available to the public.


Genetics Home Reference


Genetics Home Reference, produced by the National Library of Medicine, in the U.S., and developed by experts in clinical genetics, provides information about genetic conditions and the genes or chromosomes related to them. A lot of resources about genetic disorders are available on the Web, but most of them are written in a highly technical language. So Genetics Home Reference was launched to deliver a comprehensive information in lay language to the general public. Each summary is presented according to a question and answer format, including information about the genetic causes, mode of inheritance, and frequency of a condition. For additional information, links are provided to health information sources from the National Institutes of Health and other organizations, such as PubMed, MedlinePlus, OMIM, Gene Tests, or Clinical Trials. The Handbook Menu, "Help Me Understand Genetics", features nine chapters presenting a basic information of how genes work, how genetic conditions are inherited, genetic counselling and testing, gene therapy and the Human Genome Project.




NORD (National Organization for Rare Disorders) is a non profit federation of health organizations, dedicated to help people with rare diseases. It was created in 1983 by patients and families and performs advocacy actions at the American level. The rare disease database proposes more than 1200 reports written in patient-friendly language by medical writers and physicians, with links to resources that may be useful to individuals and families affected by rare diseases. Access to abstracts is free, but registration is required if you choose to view full reports. Another database provides information on more than 2000 patient organizations, mainly in North America.


Genetic Alliance


Genetic Alliance is a U.S. nonprofit health advocacy organization in the field of genetics. Its network includes more than 1,000 disease-specific advocacy organizations. Disease InfoSearch, its online search tool, includes a database of resources for genetic conditions and advocacy organizations with links to information from selected and reliable websites. Disease InfoSearch also includes a portal developed in collaboration with the National Library of Medicine (NLM) in the U.S., linking to a wide range of resources for patients and families, all of them provided by the numerous databases from the NLM. Genetic Alliance's website also features two wikis : WikiGenetics provides a lay language genetics encyclopaedia, validated by an editorial board of experts in genetics. WikiAdvocacy is a guide which covers every aspect of founding and managing an advocacy organization.


Page created: 17/05/2013
Page last updated: 08/11/2013
La voz de los pacientes de enfermedades raras en EuropaEURORDIS La voz internacional de las personas que tienen enfermedades rarasRare Disease International Reuniendo a pacientes, familiares y expertos para compartir experiencias en un foro moderado en distintos idiomas. RareConnect El Programa Rare Barometer es una iniciativa de EURORDIS que realiza encuestas para transformar las experiencias de los pacientes con enfermedades raras en cifras que puedan compartirse con los responsables políticos.Rare Barometer Una campaña internacional de sensibilización que se celebra todos los años el último día de febrero, El Día de las Enfermedades Raras es una iniciativa de EURORDISRare Disease Day Únete al mayor grupo de partes interesadas en toda Europa, en la Conferencia Europea sobre Enfermedades Raras y Medicamentos Huérfanos que se celebra cada dos años. ECRD es una iniciativa de EURORDISEuropean Conference on Rare Diseases