Deep Phenotyping For Patients By Patients: A Plain-Language Medical Vocabulary For Precision Diagnosis
Year: 2018
Type: article
Abstract: This paper describes an effort to increase accessibility of the Human Phenotype Ontology to patients and non-medical experts by adding lay-person synonyms and terminology.
Authors: Vasilevsky, Nicole A., Foster, Erin D., Engelstad, Mark E., Carmody, Leigh, Might, Matt, Chambers, Chip, Dawkins, Hugh J.S., Lewis, Janine, Della Rocca, Maria G., Snyder, Michelle, Boerkoel, Cornelius F., Rath, Ana, Terry, Sharon F., Kent, Alastair, Searle, Beverly, Baynam, Gareth, Jones, Erik, Gavin, Pam, Bamshad, Michael, Chong, Jessica, Groza, Tudor, Adams, David, Resnick, Adam C, Heath, Allison P, Mungall, Chris, Holmes, Ingrid, Rageth, Kayli, Brownstein, Catherine, Shefchek, Kent, McMurry, Julie A., Robinson, Peter N., Kohler, Sebastian, Haendel, Melissa A
Institutions: Oregon Health & Science University, Indiana University School of Medicine, The Jackson Laboratory for Genomic Medicine, Vanderbilt University Medical Center, Government of Western Australia, National Center for Advancing Translational Sciences, Sanford Health, Orphanet, Genetic Alliance, Genetic Alliance UK (United Kingdom), The University of Western Australia, Inspire, National Organization for Rare Disorders, University of Washington, Garvan Institute of Medical Research, Children's Hospital of Philadelphia, Lawrence Berkeley National Laboratory, Harvard University, NeuroCure Cluster of Excellence, Charité – Universitätsmedizin Berlin
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W3210978696