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Funding was provided by the US National Institutes of Health (NIH) Monarch Initiative (OD 5R24OD011883; N.A.V., L.C., T.G., C.M., J.A.M., P.N.R., K.S., S.K., M.A.H.) and Patient-Centered Outcomes Research Institute (PCORI) contract number ME-1511-33184 (N.A.V., I.H., C.B., K.S., J.A.M., M.A.H.).

Author information


  1. Oregon Clinical & Translational Research Institute, Oregon Health & Science University, Portland, OR, USA

    • Nicole A. Vasilevsky
    • , Kent Shefchek
    • , Julie A. McMurry
    •  & Melissa A. Haendel
  2. Department of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University, Portland, OR, USA

    • Nicole A. Vasilevsky
    •  & Melissa A. Haendel
  3. School of Medicine, Indiana University School of Medicine, Indianapolis, IN, USA

    • Mark E. Engelstad
  4. School of Dentistry, Oregon Health & Science University, Portland, OR, USA

    • Erin D. Foster
  5. Jackson Laboratory for Genomic Medicine, Farmington, CT, USA

    • Leigh Carmody
    •  & Peter N. Robinson
  6. Undiagnosed Disease Network, Boston, MA, USA

    • Matt Might
  7. School of Medicine, Vanderbilt University, Nashville, TN, USA

    • Chip Chambers
  8. Department of Health, Government of Western Australia, Perth, Western Australia, Australia

    • Hugh J. S. Dawkins
  9. National Center for Advancing Translational Sciences, Genetic and Rare Diseases Information Center, Bethesda, MD, USA

    • Janine Lewis
    • , Maria G. Della Rocca
    •  & Michelle Snyder
  10. Sanford Health Imagenetics, Sioux Falls, SD, USA

    • Cornelius F. Boerkoel
    •  & Kayli Rageth
  11. Orphanet, Paris, France

    • Ana Rath
  12. Genetic Alliance, Washington, DC, USA

    • Sharon F. Terry
  13. Genetic Alliance UK, London, UK

    • Alastair Kent
  14. Unique, Oxted, UK

    • Beverly Searle
  15. Medical School, University of Western Australia, Perth, Western Australia, Australia

    • Gareth Baynam
  16. Inspire, Arlington, VA, USA

    • Erik Jones
  17. National Organization for Rare Disorders, Quincy, MA, USA

    • Pam Gavin
  18. Department of Pediatrics, University of Washington, Seattle, WA, USA

    • Michael Bamshad
    •  & Jessica Chong
  19. Kinghorn Centre for Clinical Genomics, Garvan Institute, Sydney, New South Wales, Australia

    • Tudor Groza
  20. Undiagnosed Disease Program, Bethesda, MD, USA

    • David Adams
  21. Center for Data-Driven Discovery in Biomedicine, Children’s Hospital of Philadelphia, Philadelphia, PA, USA

    • Adam C. Resnick
    •  & Allison P. Heath
  22. Lawrence Berkeley National Laboratory, Berkeley, CA, USA

    • Chris Mungall
  23. Division of Genetics and Genomics, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA

    • Ingrid A. Holm
    •  & Catherine A. Brownstein
  24. NeuroCure Cluster of Excellence, Charité–Universitätsmedizin Berlin, Berlin, Germany

    • Sebastian Köhler
  25. Linus Pauling Institute, Oregon State University, Corvallis, OR, USA

    • Melissa A. Haendel


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M.A.H. conceived the work. N.A.V., E.D.F., M.E.E., L.C., K.R., S.K. and P.N.R. added layperson synonyms to the Human Phenotype Ontology. K.S. and S.K. performed the analysis. J.A.M. designed the figure. N.A.V., E.D.F., M.E.E., L.C., M.M., C.C., H.J.S.D., J.L., M.G.D.R., M.S., C.F.B., A.R., S.F.T., A.K., B.S., G.B., E.J., P.G., M.B., J.C., T.G., D.A., A.C.R., A.P.H., C.M., I.H., K.R., C.B., K.S., J.A.M., P.N.R., S.K. and M.A.H. wrote the manuscript.

Competing interests

The authors declare no competing interests.

Corresponding author

Correspondence to Melissa A. Haendel.