www.orphadata.com 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.

Internet hosting:

GANDI SAS, Société par Actions Simplifiée au capital de 630000 €

63-65 boulevard Masséna Paris (75013) FRANCE

Siren 423 093 459 RCS PARIS

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 Orphadata powered 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.

We make no warranties regarding the correctness of the data, and disclaim liability for damages resulting from its use. Any medical or genetic information is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Data submitted through this website will never be shared with any third parties.

Orphanet, in its capacity as a provider of high-quality information on rare diseases, informs you that we process your personal data. Your data is subjected to special protection, in accordance with the European General Data Protection Regulation (GDPR). Orphanet is committed to guaranteeing the accuracy, integrity and relevance of the personal data collected.

Legal basis

Your surname, name and professional email address, your IP address and, if relevant, your professional phone number are collected in the context of the Inserm’s public interest mission, that being to improve the health of all by advancing knowledge of life and disease, innovation in treatment, and public health research

Aims

If you are involved in the activities of a specialised expert centre, centre of expertise, medical laboratory, research project, clinical trial, patient registry/ mutation database, network, technological platform, patient organisation in the rare disease field or as a contributor to Orphanet content as an expert, we collect and register in our information system your surname, name, professional email address and, if relevant, your professional phone number in order to:

• Display your data on the Orphanet website and derived applications produced by Orphanet (for more details you can read our activity report section). Please note that you have the option of declaring that you do not want your email and/telephone number to be published on the Orphanet site

• Contact you, at least once a year, by email and invite you to create an account or to declare your new activities and/or to update those already registered via the online registration Orphanet website.

Occasionally, we will also use your personal data to invite you to:

• Assess our scientific data and to credit your input as an expert. In this case, your surname and name will be also be shown in our Orphanet Report Series, in products such as Orphanet Emergency Guidelines, Orphanet Articles for the General Public, disability and functional consequences annotations and guides, disease summaries displayed on the Orphanet website, etc;

• Invite you or to keep you informed of events relating to the rare disease community (conferences, seminars);

• Invite you to evaluate our services and/or products through surveys.

• Invite you to participate in surveys or to provide you with targeted information related to your activity.

As a user of the Orphanet website and webservices, your IP address is collected in the server logs for security purposes.

Any other treatment of your personal data than the ones cited above will be subject to a specific request addressed to you.

Responsibilities, storage and duration

Storage of your surname, name, professional email address and phone number

Your personal data is collected by the Orphanet team members, and stored in our servers as long as you do not ask for it to be deleted or as long as the related content (text, specialised expert centre, centre of expertise, medical laboratory, research project, clinical trial, patient registry/ mutation database, network, technological platform, patient organisation) is still active for the needs of consultation or analysis. In any case, the data retention period shall not exceed 10 years of inactivity, after which personal data shall be erased as part of the right to be forgotten.

Orphanet ensures at all times that only authorised persons (members of the Orphanet network and our service providers) have access to your personal data, and that they share the same confidentiality commitments. We strictly ensure that the personal data collected is never transferred to any other party.

Storage of IP addresses (Orphanet web traffic tool and Google analytics)

IP addresses are automatically recorded by our IT system in server logs during one year, only for security analysis purposes. Orphanet uses Google Analytics to analyse our audience and this data is presented in an anonymised format. Only IP addresses as personal data are collected and are not accessible to the Orphanet IT team through the Google Analytics interface. In this scope, 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 14 months.

For information concerning the conservation of data collected by our web traffic tool, Google Analytics, please consult the Google Inc.’s privacy policy.

Storage of email while using the contact forms

When you click on a third party’s email address on the Orphadata site, a contact form opens up. Correspondence via these forms is confidential and will not be consulted or stored by the Orphanet teams. Only you and your contact can view the content of these messages. The content of the correspondence is not stored in our database: it is sent as an email to the contact. Emails sent to Orphanet teams may be kept in the inboxes of relevant team members, but they are not stored in our database.

Personal rights

In accordance with the French “Informatique et Libertés” law and the GDPR, you have, at any time, the right to access, rectify and contest your personal data collected by Orphanet. You also have a right to request the portability or destruction of your data, the deletion of your account and the limits to data processing. You may exercise these rights at any time by contacting the Data Protection Officer (DPO) of Orphanet (gdpr.orphanet@inserm.fr) or by post to Data protection, Orphanet-INSERM US14, Plateforme Maladies Rares, 96 rue Didot, 75014 Paris) by providing a copy of proof of identity bearing your signature.

If, 31 days after contacting us, you believe that your rights in the field of Information Technology and Liberties are not respected, you are entitled to file a claim with the CNIL online.

Use of the site is limited to personal use only. Orphanet data are available to download at orphadata.com

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.com for use in another information system is allowed for any non-commercial use. 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.

We have chosen to apply the Commons Attribution 4.0 International (CC BY 4.0) to all copyrightable parts of our databases. This means that you are free to copy, distribute, display and make commercial use of these databases in all legislations, provided you give us credit.

You must indicate if you have made changes to the data. This can be done so in a reasonable manner, but not in any way that suggests that Orphanet endorses you or your use.

You may not apply legal terms or technological measures that legally restrict others from doing anything the license permits.

Please consult the terms of the licence for more information.

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. © INSERM 1999. Available on http://www.orpha.net. Accessed (date accessed).

The appropriate form when quoting Orphadata is:

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on https://www.orphadata.com. Data version (XML data version).

On demand, it’s possible to use one of our logos. Please use the contact form to ask.

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.

INSERM US14 reserves the right to change, without forewarning, the present terms of use of the website www.orphadata.com

Links to the home page or one of the Orphadata 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.

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.

Any use or reproduction, even in part, of one of the elements of the Orphadata 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 Orphadata 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 signaled 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 Orphadata 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.

In accordance with article 8.1 of the terms of use of the Google Analytics service, we draw your attention to the following declaration:

“This website uses Google Analytics, a web analytics service provided by Google, Inc. (“Google”). Google Analytics uses “cookies”, which are text files placed on your computer, to help the website analyze how users use the site. The information generated by the cookie about your use of the website (including your IP address) will be transmitted to and stored by Google on servers in the United States . Google will use this information for the purpose of evaluating your use of the website, compiling reports on website activity for website operators and providing other services relating to website activity and internet usage. Google may also transfer this information to third parties where required to do so by law, or where such third parties process the information on Google’s behalf. Google will not associate your IP address with any other data held by Google. You may refuse the use of cookies by selecting the appropriate settings on your browser, however please note that if you do this you may not be able to use the full functionality of this website. By using this website, you consent to the processing of data about you by Google in the manner and for the purposes set out above.”

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 », « Twitter » etc.).

You can manage cookies in a number of different ways.

Internet browser settings:

At any time you can chose to disactive these cookies. Your browser can also be configured to alert you when cookies are placed on your computer and can ask you to accept them or refuse them. You can accept or refuse cookies on a case by case basis or refuse them systematically once and for all.

Please be aware that such a configuration is likely to change the access conditions to services which call for the use of cookies.

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 Firefox

o Go to the ‘Tools’ tab of the browser, then select ‘Options’

o In the window that opens, choose ‘Privacy’ and click on ‘Show cookies’.

o Look for the files containing the names mentioned above. Select them and delete them

• if you use Safari

o In your browser, choose the menu ‘Publication preferences’.

o Click on ‘Security’.

o Click on ‘Show cookies’.

o Select the cookies containing the names mentioned above and click on Delete or Delete all.

o After deleting the cookies, click on Finish.

• if you use Google Chrome

o Click on the Tool menu icon.

o Select Options.

o Click on the tab Advanced options and go to ‘Confidentiality’.

o Click Show cookies.

o Find the files that contain the names mentioned above. Select them and Delete them.

o Click Close to go back to your browser.

Last update: July 2022