Published February 7, 2018 | Version v1
Preprint Open

Deep phenotyping for patients by patients: a plain-language medical vocabulary for precision diagnosis

Creators

  • 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.

Files

Manuscript_Preprint_2018-02-07.pdf

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