Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

Author:

Köhler Sebastian123ORCID,Carmody Leigh34,Vasilevsky Nicole35ORCID,Jacobsen Julius O B36,Danis Daniel34,Gourdine Jean-Philippe35ORCID,Gargano Michael34,Harris Nomi L37,Matentzoglu Nicolas38,McMurry Julie A39ORCID,Osumi-Sutherland David38,Cipriani Valentina3101112ORCID,Balhoff James P313ORCID,Conlin Tom39ORCID,Blau Hannah34ORCID,Baynam Gareth1415161718,Palmer Richard17,Gratian Dylan14,Dawkins Hugh18,Segal Michael19,Jansen Anna C2021,Muaz Ahmed322,Chang Willie H23,Bergerson Jenna24,Laulederkind Stanley J F25ORCID,Yüksel Zafer26ORCID,Beltran Sergi2728ORCID,Freeman Alexandra F24,Sergouniotis Panagiotis I29,Durkin Daniel4,Storm Andrea L3031,Hanauer Marc32,Brudno Michael23,Bello Susan M33ORCID,Sincan Murat34,Rageth Kayli34,Wheeler Matthew T35ORCID,Oegema Renske36,Lourghi Halima32,Della Rocca Maria G3031,Thompson Rachel37ORCID,Castellanos Francisco4,Priest James38,Cunningham-Rundles Charlotte39,Hegde Ayushi4,Lovering Ruth C40ORCID,Hajek Catherine34,Olry Annie32,Notarangelo Luigi24,Similuk Morgan24,Zhang Xingmin A34ORCID,Gómez-Andrés David41,Lochmüller Hanns27424344ORCID,Dollfus Hélène45,Rosenzweig Sergio46,Marwaha Shruti35,Rath Ana32ORCID,Sullivan Kathleen47,Smith Cynthia33ORCID,Milner Joshua D24,Leroux Dorothée45,Boerkoel Cornelius F34,Klion Amy24,Carter Melody C24,Groza Tudor322,Smedley Damian36,Haendel Melissa A359,Mungall Chris37,Robinson Peter N3448ORCID

Affiliation:

1. Charité Centrum für Therapieforschung, Charité—Universitätsmedizin Berlin Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin 10117, Germany

2. Einstein Center Digital Future, Berlin 10117, Germany

3. Monarch Initiative, monarchinitiative.org

4. The Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA

5. Oregon Health & Science University, Portland, OR 97217, USA

6. Genomics England, Queen Mary University of London, Dawson Hall, Charterhouse Square, London EC1M 6BQ, UK

7. Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA

8. European Bioinformatics Institute (EMBL-EBI), Wellcome Trust Genome Campus, Cambridge, UK

9. Linus Pauling institute, Oregon State University, Corvallis, OR, USA

10. William Harvey Research Institute, Queen Mary University College of London

11. UCL Genetics Institute, University College of London

12. UCL Institute of Ophthalmology, University College of London

13. Renaissance Computing Institute, University of North Carolina at Chapel Hill

14. Western Australian Register of Developmental Anomalies and Genetic Services of Western Australia, Department of Health, Government of Western Australia, WA, Australia

15. School of Paediatrics and Telethon Kids Institute, University of Western Australia, Perth, WA, Australia

16. Institute for Immunology and Infectious Diseases, Murdoch University, Perth, WA, Australia

17. Spatial Sciences, Department of Science and Engineering, Curtin University, Perth, WA, Australia

18. The Office of Population Health Genomics, Department of Health, Government of Western Australia, Perth, WA, Australia

19. SimulConsult, Chestnut Hill, MA, USA

20. Neurogenetics Research Group, Vrije Universiteit Brussel, Brussels, Belgium

21. Pediatric Neurology Unit, Department of Pediatrics, UZ Brussel, Brussels, Belgium

22. Garvan Institute of Medical Research, Darlinghurst, Sydney, NSW 2010, Australia

23. Centre for Computational Medicine, Hospital for Sick Children and Department of Computer Science, University of Toronto, Toronto, Canada

24. National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA

25. Rat Genome Database, Department of Biomedical Engineering, Medical College of Wisconsin & Marquette University, 8701 Watertown Plank Road Milwaukee, WI 53226, USA

26. Bioscientia GmbH, Ingelheim, Germany

27. CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Baldiri Reixac 4, Barcelona 08028, Spain

28. Universitat Pompeu Fabra (UPF), Barcelona, Spain

29. University of Manchester & Manchester Royal Eye Hospital, Manchester, UK

30. ICF, Rockville, MD, USA

31. National Center for Advancing Translational Sciences, Office of Rare Diseases Research, National Institutes of Health, Bethesda, MD, USA

32. INSERM, US14—Orphanet, Plateforme Maladies Rares, 75014 Paris, France

33. The Jackson Laboratory, Bar Harbor, ME, USA

34. Sanford Imagenetics, Sanford Health, Sioux Falls, SD, USA

35. Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA

36. Department of Genetics, University Medical Center Utrecht, the Netherlands

37. Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK

38. Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA

39. Mount Sinai School of Medicine, New York, NY, USA

40. Institute of Cardiovascular Science, University College London, UK

41. Child Neurology Unit. Hospital Universitari Vall d’Hebron, Vall d’Hebron Research Institute (VHIR), Barcelona, Spain

42. Department of Neuropediatrics and Muscle Disorders, Medical Center—University of Freiburg, Faculty of Medicine, Freiburg, Germany

43. Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada

44. Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Canada

45. Centre for Rare Eye Diseases CARGO, SENSGENE FSMR Network, Strasbourg University Hospital, Strasbourg, France

46. Immunology Service, Department of Laboratory Medicine, NIH Clinical Center, Bethesda, MD, USA

47. Department of Pediatrics, Division of Allergy Immunology, The Children’s Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, 3615 Civic Center Boulevard, Philadelphia, PA 19104, USA

48. Institute for Systems Genomics, University of Connecticut, Farmington, CT, USA

Funder

National Institutes of Health

Forums for Integrative Phenomics

NCATS Data Translator

NCATS National Center for Digital Health Informatics Innovation

British Heart Foundation

Division of Intramural Research NIAID

European Union ’s Horizon 2020 Research and Innovation Programme

Publisher

Oxford University Press (OUP)

Subject

Genetics

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