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Finally, a medical terminology that patients, doctors, and machines can all understand.

By Nicole Vasilevsky, Mark Engelstad, Erin Foster, Julie McMurry, Chris Mungall, Peter Robinson, Sebastian Köhler, Melissa Haendel

For many patients with rare and undiagnosed diseases, getting an accurate diagnosis, or even finding the appropriate experts is a long and winding road. To accelerate and facilitate this process, we developed a medical vocabulary (“HPO”) which is comprised of 12,000 terms that doctors can use to codify the precise and distinct observations about patients and their conditions. The HPO is structured in a way that enables machines to intelligently compare a patient’s profile with what scientists worldwide have already uncovered about diseases and their genetic causes.

Until now, most of the HPO labels and synonyms were composed of clinical terms unfamiliar to patients. For example, a patient may know they are ‘color-blind’, but may not be familiar with the clinical term ‘Dyschromatopsia’. This is why we developed a layer of 5,000 corresponding terms that can be understood by patients, basic research scientists, clinicians, and machines alike to help improve disease characterization and diagnosis.

The Monarch curation team systematically reviewed current HPO classes and assigned plain language synonyms wherever possible. We hope that the addition of these synonyms will increase the usability and impact of the HPO. We welcome contributions and suggestions from the general public and from citizen scientists: please report issues or make suggestions on our issue tracker, https://github.com/obophenotype/human-phenotype-ontology, or by contacting info@monarchinitiative.org

Nicole Vasilevsky: vasilevs@ohsu.edu

Sebastian Kohler: sebastian.koehler@charite.de

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