IT402: Enhancing the Human Phenotype Ontology for Use by the Layperson

TitleIT402: Enhancing the Human Phenotype Ontology for Use by the Layperson
Publication TypeConference Paper
Year of Publication2016
AuthorsVasilevsky N, Engelstad M, Foster E, Mungall C, Robinson P, Köhler S, Haendel M
Conference NameInternational Conference on Biomedical Ontology and BioCreative (ICBO BioCreative 2016)
Date Published11/30/16 Volume 1747
Other NumbersVol-1747|urn:nbn:de:0074-1747-1

In rare or undiagnosed diseases, physicians rely upon genotype and phenotype information in order to compare abnormalities to other known cases and to inform diagnoses. Patients are often the best sources of information about their symptoms and phenotypes. The Human Phenotype Ontology (HPO) contains over 12,000 terms describing abnormal human phenotypes. However, the labels and synonyms in the HPO primarily use medical terminology, which can be difficult for patients and their families to understand. In order to make the HPO more accessible to non-medical experts, we systematically added new synonyms using non-expert terminology (i.e., layperson terms) to the existing HPO classes or tagged existing synonyms as layperson. As a result, the HPO contains over 6,000 classes with layperson synonyms.