HPO extended with a plain-language medical vocabulary


Sebastian
 

Dear HPO Users.

In clinical settings, phenotypic abnormalities are often defined using specialized medical terminology, which can be difficult for patients to understand. This so-called terminology-gap can impede participation of patients and families in research projects concerned with the phenotype or natural history of diseases, and can even make it difficult for patients to understand data from their own medical charts.

The HPO Project and the Monarch Initiative have therefore “translated” the terms of the HPO into “plain language”. For instance, the term for “Macrocephaly" can be translated as "Large skull".

This joint project with the Monarch-Initiative, HPO, PCORI, Sanford Medical, and a lot of other contributors on adding layperson synonyms to HPO has now been published in Nature Genetics.

The link to the publication is https://www.nature.com/articles/s41588-018-0096-x .
A open-access preprint is available at https://doi.org/10.5281/zenodo.1168737 .

Best wishes,
Sebastian (on behalf of the monarch-initiative)

--
Dr. rer. nat. Sebastian Köhler
NeuroCure Cluster of Excellence
Charité - Universitätsmedizin Berlin
Charitéplatz 1
D-10117 Berlin
Germany
sebastian.koehler@charite.de
http://www.charite.de
http://drseb.github.io
http://phenomics.github.io


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