The site orphadata.com is a publication of INSERM, US14 – Orphanet (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:

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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 – Orphanet aims to ensure the accuracy and the regular update of information at the moment of publication on the website.

However, INSERM, US14 – Orphanet 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 summaries are expert-reviewed texts. These general texts may not apply to specific cases, due to the extensive variability of disease expression. Some information may alarm users : 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 the Orphanet website (www.orpha.net) is updated on a regular basis. New discoveries could have been made in between updates and do not yet appear on on the website. 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.

INSERM, US14 -Orphanet cannot be held responsible for harmful, truncated or erroneous use of any information foundon the Orphanet website.

The clinician using the information provided in Orphanet is solely responsible for any diagnosis made.

Disease information (disease nomenclature and classifications, summaries, phenotypic and disability annotations, genetic information, etc) are produced using scientific publications and/or expert opinion. This information is updated on a regular basis, and new information is added when available. INSERM, US14 – Orphanet cannot guarantee the exhaustivity of these classifications.

Information concerning expert resources is collected on a national level in countries that are full members of the Orphanet network. The database cannot be considered to be exhaustive.

If an expert centre, a laboratory or diagnostic test, a professional, a research project, a clinical trial, a patient registry, a patient organisation, a biobank or an institution is not listed for a certain region or country, this could be because Orphanet has not yet identified this information, because the Orphanet national team is currently not collecting this information, or because the person in charge has refused to be listed in Orphanet. It is also possible that such resource exists for the zone or the disease in question.

Under no circumstances should the listed expert centres be considered to be the only centres suitable for diagnosis and treatment.

Orphanet receives European Commission co-funding for some of its activities. The content of this website represents the views of the author(s) 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.

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

The personal data collected is that from the contact form (https://www.orphadata.com/contact/): name, first name, email of users. Any person who does not provide all the obligatory required information requested in the forms of this site (*Obligatory fields) will not be able to validate the form and will not be able to enter into contact with INSERM US14, Orphanet.

Personal data is conserved by INSERM, US14 – Orphanet for a period not exceeding 10 years.

The personal data you enter in the contact form is collected with your consent solely to establish a commercial and professional contact with users, and in the scope of our internal client management processes/system. By providing your data in the contact form you consent to us processing your data for the aims described below.

The data you enter into the Orphadata contact form (only the fields with an asterix are compulsory) is stocked electronically by INSERM, US14 – Orphanet in order to :

• Contact you so as to reply to your enquiry concerning Orphadata service. In this context and in a second step, we may also be required to store the telephone number. If a service is set up and with the user’s agreement, this data may also be recorded in an internal customer request tracking tool (and shared with INSERM or INSERM-Transfert as part of the implementation of a DTA or a MOU).

• Document, in our internal client management system, the processing of your enquiry

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

• 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 Orphadata 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.

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. 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.

INSERM, US14 – 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 we ensure that your personal data is only shared with the third parties necessary in order to deliver the service you have requested.

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. IP addresses are the only personal data 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.

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 INSERM, US14 – 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, INSERM, US14 – Orphanet, 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 have not received a response from INSERM, US14 – Orphanet, please contact us again. If 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.

Access to the site can be interrupted at any moment, without forewarning, especially in the case of force majeure, maintenance, or if INSERM, US14 – Orphanet 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 Orphanet database/ knowledgebase, the format of the www.orpha.net and www.orphadata.com websites, the Orphanet and Orphadata tradenames, logos and copyright, as well as the data and information on the site (including content, texts, classifications, nomenclatures, etc.). You may not use the Orphanet and Orphadata logos without explicit, prior permission.

No element or part of the Orphadata website (including, but not limited to, the database and the information contained within) can be copied, translated, reproduced, exploited, published, electronically stocked or redistributed without prior written consent from INSERM, US14 – Orphanet (contact us). Different conditions apply to the Orphadata Science datasets to which the CC BY 4.0 licence is applied (see below for detail).

Users may download the data made available on www.orphadata.com in the Orphadata Science section and use them as they wish (including use in other information systems) according to the Commons Attribution 4.0 International (CC BY 4.0) licence. This means that you are free to copy, distribute, display and make commercial use of this data in all legislations, provided you give us cite the provenance (citation guidelines below).

You must indicate if you have made changes to the data. This can be done 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 licence permits.

Please consult the terms of the licence for more information.

When the CC BY 4.0 licence is applied, it is stated clearly on the page giving access to the dataset and in the dataset itself.

If you have any doubts on the use you wish to make of this data, please contact us.

Use of datasets and services in Orphadata Products is subject to the terms of a Data Transfer Agreement, or a Service Contrat (depending on the user’s status), to be signed before access to the files/services is granted. Please contact us for more information.

The appropriate form when quoting Orphanet is:

Orphanet: an online rare disease and orphan drug data base. © INSERM 1999. Available on orpha.net.

Accessed (date accessed).

The appropriate form when quoting Orphadata Science is:

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Available on http://sciences.orphadata.com/. Data version [Date of data version].

The appropriate form when quoting Orphadata Products is:

Orphadata Products: Data and services from Orphanet. © INSERM 1999. Available on https://www.orphadata.com/orphadata-products/. Data version [Date of data version].

Use of our logos (Orphanet, Orphadata, Orphadata Science, Orphadata Products, ORDO, HOOM, ORPHAcodes etc)  is subject to our prior approval. Please use the contact form to ask.

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 correct citation (see above), is clearly indicated on the link or next to it.

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 Orphanet website 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 Orphadata 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 site 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 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 Orphadata cannot be held responsible for errors and omissions made in the information and data published online, nor for the technical problems encountered on the website and on other websites you may be directed to through links on an Orphadata 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 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 2025