HPO extended with a plain-language medical vocabulary


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

Diese Nachricht (inklusive aller Anhänge) ist vertraulich. Sie darf ausschließlich durch den vorgesehenen Empfänger und Adressaten gelesen, kopiert oder genutzt werden. Sollten Sie diese Nachricht versehentlich erhalten haben, bitten wir, den Absender (durch Antwort-E-Mail) hiervon unverzüglich zu informieren und die Nachricht zu löschen. Jede unerlaubte Nutzung oder Weitergabe des Inhalts dieser Nachricht, sei es vollständig oder teilweise, ist unzulässig. Bitte beachten Sie, dass E-Mail-Nachrichten an den Absender nicht für fristgebundene Mitteilungen geeignet sind. Fristgebundene Mitteilungen sind daher ausschließlich per Post oder per Telefax zu übersenden. Wir haben diese E-Mail beim Ausgang einer Virenkontrolle unterzogen, raten aber wegen der Gefahr einer Kontamination auf den Übertragungswegen zu einer Vireneingangskontrolle. Eine Haftung für Virenfreiheit schließen wir aus.

This message (including any attachments) is confidential and may be privileged. It may be read, copied and used only by the intended recipient. If you have received it in error please contact the sender (by return e-mail) immediately and delete this message. Any unauthorised use or dissemination of this message in whole or in part is strictly prohibited. Please note that, for organisational reasons, the personal e-mail address of the sender is not available for matters subject to a deadline. Therefore, please send matters subject to deadline exclusively by mail or by fax. This e-mail was checked for virus contamination before being sent. Nevertheless it is advisable to check for any contamination occuring during transmission. We cannot accept any liability for virus contamination.