Online Training Orphanet nomenclature and Orphanet Rare Disease Ontology – ORDO for clinicians/researchers

  • 10 September 2021 - 10:30
  • Online

Online Training Orphanet nomenclature and Orphanet Rare Disease Ontology – ORDO for clinicians/researchers

10 September 2021 – Online Training

Registration deadline: 16 July 2021

Online registration form:

Registration deadline: July 16th 2021
IMPORTANT: To ensure active participation and exchange with teaching staff and participants, a limited number of participants will be admitted. A selection process will be applied by an ad-hoc committee (EJP RD representatives who organized the Training), using as selection criteria, the applicants’ backgrounds and their activities with reference to rare diseases research and/or biobanks.

A confirmation e-mail will be sent, by July 30th 2021, to the selected participants to the course.

Applicants who are not contacted by email should consider themselves not selected but will be kept on a waiting list until September 1st 2021.

This training is aimed at improving knowledge and basic skills about Orphanet nomenclature (including the ORPHA codes) and Orphanet Rare Disease Ontology – ORDO for clinicians/researchers, and for the IT teams involved.

This training has been developed by the Orphanet Network with the support of the EJP-RD Task 14-1 Scientific Committee (

By the end of the EJP RD 14.1 training module, participants will be able to:
I) Explain what the Orphanet nomenclature and the Rare Disease Ontology (ORDO) are
II) Access Orphanet data that is relevant to their rare disease research activities
III) Contribute to Orphanet data by using dedicated forms and helpdesks

This training is addressed to beginners.

This training is made of two modules:

  1. The first module does not foresee any interaction with the trainers, the learning material (in english) will be accessible online for the participants (individual learning). It’s aimed at enhancing knowledge on Orphanet Nomenclature, Orphanet data available and tools. including the Orphanet RD Ontology (ORDO) and the ORDO-HPO ontological module (HOOM).
  2. The second module foresees a direct interaction between trainers and participants via conference call (Microsoft Teams).
  3. It consists of:
  • a hands-on session to actively involve the participants in exercises, for them to “experiment” the practical use of the data;
  • A workshop aimed at actively Identify best practices and potential challenges in Orphanet Nomenclature and Ontology use, including the Orphanet RD Ontology (ORDO) and the ORDO-HPO ontological module (HOOM). Attendees will have the opportunity to provide improvements suggestions to the Orphanet teams.

The training workshop is organized as a series of webinars and hands on sessions. Interaction between participants and lecturers will be facilitated by moderated question & answer sessions.

The workshop is open to the international research community, clinicians, medical specialists, RD biobank/registry managers, healthcare IT professionals and RD patient representatives.

Priority will be given to participants involved in the European Reference Networks (ERNs) and in national and international Rare Disease Programs and Projects.

The training and registration are free of charge.
The training organisers will not cover expenses incurred by the participants in any way.

At the end of the training, participants will be requested to fill an online questionnaire as a feedback for learning and impact assessment.

A certificate of attendance will be given at the end to the participants who attended the entire workshop. No credits of Continuing Education in Medicine will be issued.

The language of the training workshop is Italian.

Online. Details for the connection will be provided in advance to confirmed participants.

This Training workshop is organized by Bambino Gesu’ Children’s Research Hospital IRCCS.
If you have questions, please contact the course organisers through this email address: 

The preliminary program is available here (language: italian).


  • Start Date:10 September 2021
  • Start Time:10:30
  • End Date:10 September 2021
  • End Time:16:45
  • Location:Online