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Rare disorders in Orphanet, depending on their clinical presentation, are included in as many classifications as needed. Classifications are based on published scientific articles and reviewed by experts.

Search a disease will allow you to view the position of a given disease in a classification. After selecting the disease of interest to you in the search results, you will see a list of all classifications containing your selected disease. You can select a classification that interests you and a list will appear containing diseases positioned both above (more major terms) and below (more minor terms) your requested disease in the classification. Click on one of the listed diseases to obtain further information about this disease.


The provided information is based on published scientific articles. Existing classifications are updated regularly and new classifications can be added. However, classifications may not be exhaustive.

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.