http://www.orpha.net is a publication of INSERM US14 (Institut national de la santé et de la recherche médicale), 96, rue Didot, 75014 Paris, France. Editor in Chief of the publication: Ana Rath, Director of Service N° 14, INSERM.
ADDICTIC - agence de communication digitale (Digital Communication Agency)
RCS Tours B 498 295 039
16, rue des Montils 37520 LA RICHE
Internet hosting: INSERM - Information Systems Department
The website is governed by French law. Users outside of French territory must categorically accept the enforcement of French laws when visiting the website and using any of the website’s functions.
To the best of its ability, INSERM US14 aims to ensure the accuracy and the regular update of information at the moment of publication on the website.
However, INSERM US14 cannot wholly guarantee the accuracy, precision nor the exhaustively of the information available on the website. The information available on the website is non-contractual, and can be changed at any time.
Information provided by Orphanet is not intended to replace professional health care. Only medical professionals are authorised to give medical advice.
The information provided in Orphanet?s encyclopaedia 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. Some information may appear 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 always indicated. Professionals are encouraged to always consult the most recent publications before making any decisions based on the information provided.
Orphanet cannot be held responsible for harmful, truncated or erroneous use of any information found in the Orphanet database.
Not all rare diseases are indexed by their clinical signs in Orphanet at the moment. As Orphanet only covers rare diseases, this function cannot be used to make a differential diagnosis with common diseases, which should be considered first when making a diagnosis.
The clinician using the information provided in Orphanet is solely responsible for the diagnosis made.
The classifications are produced using scientific publications and/or expert opinion. The classifications are updated on a regular basis, and new classifications are added when available. Orphanet cannot guarantee the exhaustivity of these classifications.
Information concerning expert resources is collected on a national level in participating countries. The database cannot be considered to be exhaustive.
If an expert centre, an expert laboratory, a professional, a research project, a clinical trial, a registry, a patient organisation or an institution is not listed for a certain region or country, this could be because Orphanet has not yet identified this information, or because the person in charge has refused to be listed in Orphanet. It is also possible that no expert centre, expert laboratory, professional, research project, clinical trial, registry, patient organisation or institution exists for the zone or the disease in question.
Not all rare diseases have specialised resources at the present time.
In no circumstance should the listed expert centres be considered to be the only centres suitable for diagnosis and treatment. These centres are intended to provide an expert opinion when needed.
This website is part of the joint action 677024 RD-ACTION which has received funding from the European Union's Health Programme (2014-2020). The content of this website represents the views of the author only and is his/her sole responsibility; it can not be considered to reflect the views of the European Commission and/or the Consumers, Health, Agriculture and Food Executive Agency or any other body of the European Union. The European Commission and the Agency do not accept any responsibility for use that may be made of the information it contains.
General Data Protection Regulation and data privacy (GDPR) and Confidentiality
The Orphanet web portal only contains data submitted voluntarily or recorded with the consent of those concerned. This applies to all email addresses and/or nominative data recorded, except the IP addresses of visitors to the site.
These IP addresses are automatically recorded by our IT system in server logs and by the company Google Inc.’s IT system. The IP addresses of our visitors, as well as their connections and information concerning their browsers, are collected by the company Google Inc. and are processed by servers in the USA and are likely to be shared with or communicated to third parties charged with processing this data for Google Inc.: these third parties could be situated outside of the European Union.
The data collected by Google Analytics are kept for 36 months. Personal data, such as IP addresses, are not accessible to the Orphanet IT team through the Google Analytics interface. The data presented in Analytics are used to analyse our audience and are presented in an anonymised format.
Use of contact forms
When you click on a third party's email address on the Orphanet site, a contact form opens up. Correspondence via these forms is confidential and will not be consulted or stored by the Orphanet teams. Only your and your contact can view the content of these messages. The content of the correspondence is not stocked in our database, it is sent as an email to the contact. Emails for Orphanet teams may be kept in the inboxes of relevant team members, but they are not stocked in our database.
Use of the site is limited to personal use only. Orphanet data are available to download at orphadata.org.
Access to the site can be interrupted at any moment, without forewarning, especially in the case of force majeure, maintenance, or if INSERM US14 decides to suspend or stop the publication of this service. The provision of this service is therefore limited to a best effort undertaking.
The INSERM holds all intellectual property rights concerning the structure of the database, the format of the website, the logo and copyright, as well as the data and information on the site (content, texts, classifications, nomenclatures, and press statements).
No element or part of the site (including, but not limited to, the database and the information contained within) can be copied, translated, reproduced, exploited, published, electronically stocked or redistributed for commercial use without prior written consent.
Large extraction of data from orphadata.org for use in another information system is allowed for any non-commercial use. Please refer to the legal notice of Orphadata for further information.
However, INSERM US14 allows the user to reproduce all or part of the site?s content, in one saved or printed copy. This right applies strictly to personal, private and non-collective use of the material.
Non-profit organisations are authorised to copy and distribute information from the site, as long as this information is neither modified nor sold. In addition to this, the terms of the intellectual property rights and the source of the information must be provided.
The appropriate form when quoting Orphanet is:
Orphanet: an online rare disease and orphan drug data base. Copyright, INSERM 1999. Available on http://www.orpha.net. Accessed (date accessed).
The appropriate form when quoting an Orphanet text is: Author(s). “Name of disease”. Orphanet Encyclopaedia, Month, year, URL address.
The appropriate form when quoting an Orphanet Emergency Guideline is : Author(s). ?Name of disease?. Orphanet Emergency Guideline, Month, year, URL address.
The appropriate form when quoting an Orphanet General Public text is : Author(s). ?Name of disease?. Orphanet General Public Encyclopaedia, Month, year, URL address.
The appropriate form when quoting an Orphanet Disability Factsheet is : Author(s). ?Name of disease?. Orphanet Disability Factsheet, Month, year, URL address.
Rights to access, modify and delete information
In accordance with the law N° 78-17, “Informatique et Libertés” (“Information Technology and Freedoms”) of 6th January 1978, personal data collected by Orphanet on the website is declared to the CNIL, and recorded in dossier N° 756532.
In accordance with the law N° 78-17, “Informatique et Libertés” (“Information Technology and Freedoms”) of 6th January 1978, you have the right to access, rectify, modify, oppose or delete any data concerning you. You can exercise this right by contacting us using our contact form, or by writing to: Orphanet US 14, 96 rue Didot, 75014 Paris, France. We will check your identity before we make the requested changes.
The website contains links to other partner or third-party websites. These sites are expert validated before online publication. However, INSERM US14 has no way of checking these sites daily, and cannot offer any guarantee concerning these sites in respect to the current laws and rules in vigour.
Creating a link to a page on the Orphanet portal
Links to the home page or one of the Orphanet web pages are authorised:
- providing that these links are not used for commercial or advertisement purposes without prior written consent from Orphanet
- providing that the name of the site (Orphanet), or an equivalent description of the portal, is clearly indicated on the link or next to it.
- providing that the authors of the link have informed INSERM US14 prior to the publication of the link
This authorisation does not apply to websites publishing information of an illegal nature, be it violent, polemic, pornographic, racist, or bearing prejudice to the sensitivity of the majority.
Creating a link to a document published on the site
All direct or embedded links to a document other than a webpage, notwithstanding their form or content, are prohibited, unless the express authorisation of the editors of the portal Orphanet has been given.
This includes in particular, but not exclusively, all documents in a graphic format (such as .jpg, .gif, .png), all multimedia or animated documents (such as .avi, .mov, .wmv, .flv, .swf, .ppt, .pps), all text or word-processed documents (such as .txt, .doc, .docx, .rtf, .xls, .pdf), as well as any other document which cannot be viewed using a standard internet browser.
We therefore recommend that you create links towards the Orphanet web pages containing the links towards these documents, instead of creating links directly to these documents.
Inclusion and using frames
Any use or reproduction, even in part, of one of the elements of the Orphanet web portal on a third-party site using techniques described as ’inclusion’, frames, inlining, or any other technique of a similar nature, is formally prohibited.
In conformity with the ’Loi pour la confiance dans l’économie numérique’ (’Law for confidence in the digital economy) of 21st June 2009, the Orphanet portal website allows any individual or visitor to signal any content likely to constitute the infractions mentioned in the 5th and 8th paragraph of article 24 of the law of 29th July 1881 concerning the liberty of the press and articles 227-23 and 227-24 of the Penal Code.
In order to signal such content, please contact us using the contact form, giving the URL of the content you deem to be illegal.
Any person who is found to have signalled content/activity as illegal in order to obtain its removal or to halt its publication even though they know that this to be untrue, can be punished under this law by a year of prison and a 15'000 ? fine.
The editors and authors of the web portal Orphanet cannot be held responsible for errors and omissions made in the information published online, nor for the technical problems encountered on the website and on other websites you may be directed to through links on an Orphanet webpage, nor for the interpretation of information published on these sites, as well as the consequences of the use of this information.
A cookie is a small alphanumerical text file placed on your hard drive by the server of the website you visit, or by a third party server.
A cookie allows a visitor to be recognised when they return to a web site. However, technically, the cookie allows a machine to be recognised, and not a user. A cookie can only be used by the server that placed it there. Cookies are used to access personalised pages without identifying oneself. Behavioural data are linked to the cookie number and stocked in the server which placed the cookies on the hard drive. A cookie only allows a nominative identification of the user if the user has previously registered on the website (within the limits previously evoked).
When this website is consulted, data relative to the navigation by your device (computer, tablet, smartphone, etc. on our website are likely to be saved in the "Cookie" files installed on your device. Only the party having placed a cookie is able to read or modify the content contained therein.
Browsing the Orphanet portal website can lead to the use of a persistent cookie (saved on your computer’s hard drive). These cookies have not been devised to collect personal information; they are uniquely intended to ease browsing of the site.
For reasons due to the technology used by one of our contractors, a session cookie may be used when visiting our website in order to make statistical analyses and to record site traffic. If you wish, you can disactivate this cookie by changing the settings of your internet browser.
Cookies used by third parties
Cookies can also be placed by partner companies (third party cookies).
The cookies can also saved via our site on your device by social media when you use the social media buttons (« Facebook », « Pinterest », «Instagram », « Google + » etc.).
You can manage cookies in a number of different ways.
Internet browser settings:
Please configure your browser bearing in mind the goal of these cookies as aforementioned.
In order to limit or block cookies:
The configuration of each browser is different. This process is described in help menu of your navigator, and will guide you in configuring cookie management according to your wishes.
You can disactivate cookies by following these instructions:
- if you use internet Explorer
- Click the Tools button, and then click Internet Options.
- In the 'General' tab, in Browsing History, click on Parameters.
- Click on the button 'Show files'.
- Click on the column header 'Name' in order to sort files by alphabetical order, then go through the list until you see files starting with 'Cookie' (all cookies use this prefix and contain the name of the website which created the cookie).
- Select and delete the following cookies: 'displayCookieConsent', 'PHPSESSID', 'BE_USER_AUTH' and 'BE_PAGE_OFFSET'.
- Close the window containing the list of files, then click twice on OK to return to Internet Explorer
- if you use Firefox
- Go to the 'Tools' tab of the browser, then select 'Options'
- In the window that opens, choose 'Privacy' and click on 'Show cookies'.
- Look for the files containing the names mentioned above. Select them and delete them
- if you use Safari
- In your browser, choose the menu 'Publication preferences'.
- Click on 'Security'.
- Click on 'Show cookies'.
- Select the cookies containing the names mentioned above and click on Delete or Delete all.
- After deleting the cookies, click on Finish.
- if you use Google Chrome
- Click on the Tool menu icon.
- Select Options.
- Click on the tab Advanced options and go to 'Confidentiality'.
- Click Show cookies.
- Find the files that contain the names mentioned above. Select them and Delete them.
- Click Close to go back to your browser.
Last update: February 2017