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Plain-language medical vocabulary for precision diagnosis

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Fig. 1: HPO pipeline.


  1. Epstein, D. The muscular dystrophy patient and Olympic medalist with the same genetic disorder. ProPublica (15 January 2016).

  2. Yang, Y. et al. N. Engl. J. Med. 369, 1502–1511 (2013).

    CAS  Article  Google Scholar 

  3. Köhler, S. et al. Nucleic Acids Res. 45(D1), D865–D876 (2017).

    Article  Google Scholar 

  4. Posey, J. E. et al. Genet. Med. 18, 678–685 (2016).

    CAS  Article  Google Scholar 

  5. Bone, W. P. et al. Genet. Med. 18, 608–617 (2016).

  6. Köhler, S. et al. Am. J. Hum. Genet. 85, 457–464 (2009).

    Article  Google Scholar 

  7. Mungall, C. J. et al. Nucleic Acids Res. 45(D1), D712–D722 (2017).

    CAS  Article  Google Scholar 

  8. Gall, T. et al. Front. Med. 4, 62 (2017).

    Article  Google Scholar 

  9. Park, M. S., He, Z., Chen, Z., Oh, S. & Bian, J. JMIR Med. Inform. 4, e41 (2016).

    Article  Google Scholar 

Download references


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.).

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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.

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Correspondence to Melissa A. Haendel.

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The authors declare no competing interests.

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Vasilevsky, N.A., Foster, E.D., Engelstad, M.E. et al. Plain-language medical vocabulary for precision diagnosis. Nat Genet 50, 474–476 (2018).

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