List of rare diseases and Syndrome
Enter your requested disease name, gene symbol, or code depending on your selection in the query zone and click OK to validate.
You may use truncated names. A list of all diseases or genes matching your query will appear. Select the one of interest to you.
Each disease is described by a name, synonyms and relevant keywords. Each gene is described by its name in English and its symbol(s). Diseases and genes are cross referenced.
Each disease is also defined by its OMIM number(s), its ICD code(s) and its Orpha number :
- OMIM is the database of mendelian phenotypes and genes created by Dr. McKusick
- ICD-10 is the 10th International Classification of Diseases established by World Health Organisation
- The Orpha number refers to the Orphanet classification of diseases
The provided information is based on published scientific articles. Disease profiles are expert-authored and peer-reviewed texts. These general texts may not apply to specific cases, due to the extensive variability of disease expression. Some information may look shocking. It is of the utmost importance to check if the provided information is relevant or not to a specific case.
Information in Orphanet is updated on a regular basis. It may happen that new discoveries are made in between updates and do not yet appear in the disease profile. The date of the last update is always indicated. Professionals are always encouraged to consult the most recent publications before making any decisions based on the information provided.
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.
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