TY - JOUR
T1 - Enhancing the human phenotype ontology for use by the layperson
AU - Vasilevsky, Nicole A.
AU - Engelstad, Mark E.
AU - Foster, Erin D.
AU - Haendel, Melissa A.
AU - Mungall, Christopher J.
AU - Robinson, Peter
AU - Köhler, Sebastian
N1 - Funding Information:
This work is supported by NIH Office of Director grant: 1R24OD011883. Thank you to Tudor Groza and Julie McMurry for their help. Apert's syndrome image credits available from monarchinitiative.org
Publisher Copyright:
© 2016, CEUR-WS. All rights reserved.
PY - 2016
Y1 - 2016
N2 - 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.
AB - 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.
KW - Human phenotype ontology
KW - Patient phenotypes
KW - Rare disease
KW - Synonyms
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M3 - Conference article
AN - SCOPUS:85018790582
SN - 1613-0073
VL - 1747
JO - CEUR Workshop Proceedings
JF - CEUR Workshop Proceedings
T2 - 2016 Joint International Conference on Biological Ontology and BioCreative - Food, Nutrition, Health and Environment for the 9 Billion, ICBO-BioCreative 2016
Y2 - 1 August 2016 through 4 August 2016
ER -