x

Search for a rare disease

Alphabetical list

Other search option(s)

Help

Watch the 'search for a disease' video tutorial

Procedures: Orphanet inventory of rare diseases

Naming rules for the rare disease nomenclature in English

Orphanet maintains the Orphanet nomenclature of rare diseases, essential in improving the visibility of rare diseases in health and research information systems: each disease in Orphanet is attributed a unique and stable identifier, the ORPHAcode.

Orphanet uses the European definition of a rare disease, as defined by the European Union Regulation on Orphan Medicinal Products (1999), that being a disease that affects not more than 1 person per 2000 in the European population.

The Orphanet rare disease nomenclature is comprised of a heterogeneous typology of entities of decreasing extension, including: groups of disorders, disorders, sub-types. A disorder in the database can be a disease, a malformation syndrome, a clinical syndrome, a morphological or a biological anomaly or a particular clinical situation (in the course of a disorder). They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.

Enter your requested disease name, ORPHAcode, gene symbol/name, MIM number (Online Mendelian Inheritance in Man), or ICD-10 (10th edition of WHO’s International Classification of Disease).

You can access aggregated datasets from Orphanet via Orphadata, including the Orphanet Nomenclature and Classification of Rare Diseases and the Orphanet Nomenclature Files for Coding in a range of languages.

Warning

The provided information is based on published scientific articles. Disease profiles are expert- reviewed texts. These general texts may not apply to specific cases, due to the extensive variability of disease expression. Given the rarity of these diseases, the treatments outlined in the abstracts are not always evidence based. The information in the abstracts isnot intended to replace existing local, regional or country specific recommendations and guidelines. Some information may look shocking. It is of the utmost importance to check with a medical professional 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 indicated. Professionals are always encouraged to consult the most recent publications before making any decisions based on the information provided.

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.

Please keep in mind that the production of the nomenclature is carried out in English and then translated into the other languages, thus a delay can be observed. If you can't find the disease you're looking for in your language it is possible this disease hasn't been translated from English to your language yet. Maybe searching with the English term on the English Orphanet webpage might yield a result.


2280 Result(s)