Frequently Asked Questions

  • What can I use the data for ?

    See the Legal Issues.

  • What datasets and ontologies do you offer?

    We have described our freely accessible datasets, request datasets, ORDO and HOOM in a series of documents, below. These documents also include annotated samples of the data, and schemas when applicable: free products description, on request products description, ORDO and HOOM.

  • What is an XML file? How do I use it?

    If you have to ask, you are probably not at ease with parsing and processing XML. Extensible Markup Language (XML) is a markup language that defines a set of rules for encoding documents in a format that is both human-readable and machine-readable.
    See Wikipedia for further information.
    But, don't worry, it is still possible to use the data in a simple way. There is plenty of software able to open it. For instance, if you are an Excel user, it is very easy :
    just download a file (right-click the link and download it). Once it is downloaded, just open it with a recent version of Excel (2003 or later). Excel will transform the XML into a wonderful Excel spreadsheet. Then you can save it in any other format convenient for you (xls, cvs, txt etc.)
    Mac users, beware! It seems that Office on Mac OS version has some difficulties managing XML in general.

  • I found data on the Orphanet website which are not in Orphadata. Is something wrong here?

    The data on the Orphanet website is managed daily, and the XML files are produced monthly. For more information, see the PDF to understand how are the data produced.
    Also, in Orphadata the dataset is a partial extraction of the data stored in Orphanet, which is also accessible at for consultation purposes only. For instance in Orphanet you may find some diseases which are not rare (or rare in USA but not in Europe) while in Orphadata you will not find a non rare disease.

  • I would like a different format, or a different dataset. Is it possible?

    Sorry, but the files are produced via a specific process. We cannot provide on request formats and data to answer particular queries. However, Orphadata provides access, on request, to other elements of the Orphanet database after signature of a Data Transfer Agreement.
    The list of the data is in our catalogue.
    Nevertheless, we are open to exploring partnerships. You can contact us using our contact form.

  • How can I do this?

    Sorry, we cannot provide data to answer particular queries. But you can consult the Orphanet website which may provide you with more information on your topic..

  • Can we contact you for a partnership ?

    We are open to exploring partnerships. You can contact us using our contact form.
    I'm a student /patient/professional. I would like to ask you something about a rare disease, or for a specific case which is not related to Orphadata dataset itself.

  • Instead of using XML files I would like to access an API. Do you have one ?

    Not yet, not yet... but we are working on this...

  • Is it possible to access an older version of the files than those currently available ?

    Yes, this is possible. Just ask using our contact form.

  • How do I visualise the XML files ?

    Some extensions for browsers (if locally installed) let you to display XML by opening the file in a new tab/window.
    We would advise Pretty XML or XML Viewer Plus for Firefox or Google Chrome