Published February 7, 2018
| Version v1
Preprint
Open
Deep phenotyping for patients by patients: a plain-language medical vocabulary for precision diagnosis
Authors/Creators
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Vasilevsky, Nicole A.1
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Foster, Erin D.2
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Engelstad, Mark E.1
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Carmody, Leigh3
- Might, Matt4
- Chambers, Chip5
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Dawkins, Hugh J.S.6
- Lewis, Janine7
- Della Rocca, Maria G.7
- Snyder, Michelle7
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Boerkoel, Cornelius F.8
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Rath, Ana9
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Terry, Sharon F.10
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Kent, Alastair11
- Searle, Beverly12
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Baynam, Gareth13
- Jones, Erik14
- Gavin, Pam15
- Bamshad, Michael16
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Chong, Jessica16
- Groza, Tudor17
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Adams, David18
- Resnick, Adam C19
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Heath, Allison P19
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Mungall, Chris20
- Holmes, Ingrid21
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Rageth, Kayli8
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Brownstein, Catherine21
- Shefchek, Kent1
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McMurry, Julie A.1
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Robinson, Peter N.3
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Kohler, Sebastian22
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Haendel, Melissa A1
- 1. Oregon Health & Science University
- 2. Indiana University School of Medicine
- 3. The Jackson Laboratory for Genomic Medicine
- 4. Undiagnosed Disease Network
- 5. Vanderbilt University Medical Center
- 6. Government of Western Australia
- 7. National Center for Advancing Translational Sciences Genetic and Rare Diseases Information Center
- 8. Sanford Health Imagenetics
- 9. Orphanet
- 10. Genetic Alliance
- 11. Genetic Alliance UK
- 12. Unique
- 13. University of Western Australia
- 14. Inspire
- 15. National Organization for Rare Disorders
- 16. University of Washington
- 17. Garvan Institute
- 18. Undiagnosed Disease Program
- 19. Children's Hospital of Philadelphia
- 20. Lawrence Berkeley National Laboratory
- 21. Harvard Medical School
- 22. NeuroCure Cluster of Excellence, Charite - Universitätsmedizin Berlin
Description
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.