ICHPT: Core set of terms to be incorporated in any Human Phenotype Terminology intended to describe rare diseases
The objective of the International Consortium of Human Phenotype Terminologies (ICHPT) is to provide the community with standards to be used to achieve interoperability between databases, in particular to allow the linking of phenotype and genotype databases for rare diseases. These tools are critical to facilitate interpretation of genomic variants as well as high-throughput sequence data.
To identify the most realistic and acceptable solution, a group of interested-parties set up the ICHPT to develop a way forward; best serving the needs of patients as well as those of specialist and non-specialist physicians, researchers, and policy makers. The outcome of the work performed is a set of terms which should be present in any terminology through one of its synonym. These terms have been already mapped to a few of the major terminologies.
The list of terms and their mapping is freely accessible. A table of core ICHPT terms and cross-referencing is found here.
We have chosen to apply the Creative Commons Attribution-NoDerivs Licence to all parts of ICHPT subject to copyright. This means that you are free to copy, distribute, display and make commercial use of this database in all legislation, provided you acknowledge ICHPT appropriately. However, if you intend to distribute a modified version of our database, you must ask us for permission first.
The appropriate form when quoting ICHPT is: ICHPT: Free access data from IRDiRC.org.
The process to elaborate of this core set of terms was supported by the expertise of many colleagues who attended two workshops: Joanna Amberger, Ségolène Aymé, Larry J Babb, Sergi Beltran, Judith Blake, Kym Boycott, John Carey, Andrew Devereau, Koenraad Devriendt, Dian Donnai, Heather Dozier, Helen Firth, Ester Garne, Ada Hamosh, Raoul Hennekam, Robert Jakob, Odile Kremp, Martine Le Merrer, David Miller, Ana Rath, Peter Robinson, Catherine Rose, Albert Schinzel, Michael Segal, Jan-Eric Slot, Nara Sobreira.
The first workshop was jointly funded by “EuroGenTest” (EC FP6 n°261469) and the “EUCERD Joint Action” (EC JA n°2011 22 01). The cross matching exercise was funded by the “EuroGenTest” contract. The second workshop was jointly funded by the “EUCERD Joint Action” and by Human Variome Project, The Larry and Sheila Pakula Family, and the participants themselves. The final phase of the project and the development of the ICPHT website was funded by “SUPPORT IRDiRC” (EC n°305207 ).
For more information, read the Proposal of a core set of terms to describe human phenotypes by the International Consortium of Human Phenotype Terminologies.
Page created: September 8, 2015