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Search by disease/gene

Search by disease/gene

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::Help

  • This screen gives access to a list of patient registries, databases and biobanks through a query by disease name or gene name. You can restrict your search to a specific category and/or to a specific country.
  • Enter your requested disease name or gene name in the query zone and click OK to validate. You may use truncated names. A list of all diseases or of all genes matching your query will appear. You must select the one of interest to you in order to obtain a list of results concerning this disease or this gene.
  • Other search options: you may search by additional options if you prefer. Please try different search options to find the one the most appropriate for your needs.

The patient registries, databases and biobanks which are registered with Orphanet are those established in Europe and surrounding countries and which are open to collaboration with researchers. Some of these research resources, even though they are not protected by a patent, are offered by offices of technology transfer (OTT).

The data is updated annually.

::Warning

The data collection takes place in European and surrounding countries and is currently ongoing. The database cannot yet be regarded as comprehensive. If there is no registry, database, or biobank listed for a disease, a group of diseases or a gene, it possible that nothing is available, or that we have not yet collected the information, but it is also possible that the professional has refused to be listed.

Orphanet aims to provide rare disease information to healthcare professionals, patients, and their relatives, in order to contribute improving the diagnosis, care and treatment of these diseases. Information in Orphanet is not intended to replace professional health care.

Orphanet cannot be held responsible for harmful, truncated or erroneous use of any information found in the Orphanet database.