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The Human Phenotype Ontology in 2024: phenotypes around the world

Journal Article · · Nucleic Acids Research
DOI:https://doi.org/10.1093/nar/gkad1005· OSTI ID:2356802
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  1. The Jackson Laboratory for Genomic Medicine , Farmington, CT (United States); HPO Team.et al.
  2. Semanticly , Athens , Greece
  3. The Jackson Laboratory for Genomic Medicine , Farmington , CT , USA
  4. Rare Disease Ghana Initiative , Accra , Ghana
  5. The Jackson Laboratory , Bar Harbor , ME , USA
  6. Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine, University of Pittsburgh , Pittsburgh , PA , USA
  7. Harvard Medical School , Boston, MA , USA
  8. Shriners Children's Northern California , Sacramento , CA , USA
  9. National Institute of Mental Health , Klecany , Czech Republic
  10. Renaissance Computing Institute, University of North Carolina , Chapel Hill , NC  27517 , USA
  11. Rare Care Centre, Perth Children's Hospital , Perth , Australia
  12. Deakin University, IMPACT - the Institute for Mental and Physical Health and Clinical Translation, School of Medicine , Barwon Health, Geelong, Australia
  13. Department of Psychiatry, University of Michigan , Ann Arbor , MI , USA
  14. Department of Psychiatry and Behavioral Sciences, UCSF Weil Institute for Neuroscience , San Francisco , CA , USA
  15. Department of Pharmacology and Toxicology, University of Toronto , Toronto , ON , Canada
  16. Nostos Genomics GmbH , Berlin , Germany
  17. St. Anna Children's Cancer Research Institute (CCRI) , Vienna , Austria
  18. Institute of Health Information and Statistics of the Czech Republic , Prague , Czech Republic
  19. Department of Biomedical Informatics, Columbia University Irving Medical Center , NY , NY , USA
  20. Simon Fraser University , Burnaby , BC , Canada
  21. Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory , Berkeley , CA  94720 , USA
  22. College of Public Health and Human Sciences, Oregon State University , Corvallis , OR  97331 , USA
  23. Schools of Medicine, Public Health, and Nursing, Johns Hopkins University , Baltimore , MD  21287 , USA
  24. UDISGEN (Dysmorphology and Genetics Unit), 12 de Octubre Hospital , Madrid , Spain
  25. Department of Clinical Research, Shriners Hospitals for Children , Montreal , Quebec , Canada
  26. Département I&D, AP-HP, Banque Nationale de Données Maladies Rares , Paris , France
  27. European Bioinformatics Institute (EMBL-EBI), Wellcome Genome Campus , Hinxton  CB10 1SD , UK
  28. Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center , Nijmegen , Netherlands
  29. Tranzo, TSB, Tilburg University , Netherlands
  30. Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine , Baltimore , MD  21287 , USA
  31. Department of Pediatrics, Dalhousie University , Halifax , NS , Canada
  32. Fetal Medicine Department, Armand Trousseau Hospital , Sorbonne University, GRC26, INSERM, Limics, Paris , France
  33. St Antoine Hospital, Reference Center for Rare Growth Endocrine Disorders, Sorbonne University, AP-HP, INSERM, US14 - Orphanet, Plateforme Maladies Rares , Paris , France
  34. Massachusetts General Hospital , Boston , MA , USA
  35. Department of Immunology, GOS Hospital for Children NHS Foundation Trust, University College London , London , UK
  36. Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus , Aurora , CO  80045 , USA
  37. INSERM, US14 - Orphanet, Plateforme Maladies Rares , Paris , France
  38. Bipolar and Depressive Disorders Unit, Institute of Neuroscience, Hospital Clinic, University of Barcelona, IDIBAPS, CIBERSAM , Barcelona , Catalonia , Spain
  39. Addenbrooke's Hospital, Cambridge University Hospitals , Cambridge , UK
  40. Department of Psychiatry, Feinstein Institutes for Medical Research, Northwell Health, Manhasset , NY , USA
  41. Neuroscience Research Australia , Sydney , NSW , Australia
  42. School of Medicine, Johns Hopkins University , Baltimore , MD  21287 , USA
  43. Immunology, NIHR Great Ormond Street Hospital BRC , London , UK
  44. Department of Obstetrics and Gynecology, Columbia University Irving Medical Center , New York , NY , USA
  45. National Institute of Allergy and Infectious Diseases, National Institutes of Health , Bethesda , MD  20892 , USA
  46. SNOMED International , London  W2 6BD , UK
  47. Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, German center for Lung research (DZL) , Munich , Germany
  48. Chinese HPO Consortium , Beijing , China
  49. Department of Structural and Computational Biology, University of Vienna; Max Perutz Labs , Vienna , Austria
  50. Khoury College of Computer Sciences, Northeastern University , Boston , MA , USA
  51. Department of Genetic Medicine, Johns Hopkins University School of Medicine , Baltimore , MD  21287 , USA
  52. University of Michigan Medical School , Ann Arbor , MI , USA
  53. Neurology, Children's Hospital of Philadelphia , Philadelphia , PA  19104 , USA
  54. University of Colorado Anschutz Medical Campus , Aurora , CO  80045 , USA
  55. William Harvey Research Institute, Queen Mary University of London , London , UK
  56. Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, Bethesda, MD , USA
  57. Department of Psychiatry, University of British Columbia , Vancouver , BC , Canada
  58. Department of Ophthalmology, University Clinic Marburg - Campus Fulda , Fulda , Germany
  59. Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health , Toronto , ON , Canada
  60. Institute of Medical and Molecular Genetics, Hospital Univ. La Paz , Madrid , Spain
  61. Translational and Clinical Research Institute, Henry Wellcome Building, Framlington Place, Newcastle University , Newcastle-Upon-Tyne  NE14LP , UK
  62. Department of Psychiatry, Brigham and Women's Hospital, Harvard Medical School , Boston , MA , USA
  63. Center for Genomic Medicine, Parc Taulí Hospital Universitari, Institut d’Investigació i Innovació Parc Taulí (I3PT-CERCA) , Sabadell , Spain
  64. Department of Biology and Medical Genetics, 2nd Medical Faculty of Charles University and University Hospital Motol , Prague , Czech Republic
  65. Feinstein Institutes for Medical Research, Northwell Health , Manhasset , NY , USA
  66. Discipline of Psychiatry & Mental Health, School of Clinical Medicine, Faculty of Medicine & Health, University of New South Wales , Sydney , NSW , Australia
  67. Okinawa Prefectural Nanbu Medical Center & Children's Medical Center
  68. School of Physical and Occupational Therapy, McGill University , Montreal , Quebec , Canada
  69. Dauten Family Center for Bipolar Treatment Innovation, Massachusetts General Hospital , Boston , MA , USA
  70. Stark Neurosciences Research Institute, Departments of Psychiatry and Medical and Molecular Genetics, Indiana University School of Medicine , Indianapolis , IN , USA
  71. INGEM/ToMMo, Tohoku University , Sendai , Japan
  72. Data Collaboration Center, Data Science, Critical Path Institute , Tucson , AZ , USA
  73. Department of Psychiatry, University of Toronto , Toronto , ON , Canada
  74. Centro de Investigaciones en Anomalías Congénitas y Enfermedades Raras (CIACER), Universidad Icesi , Cali , Colombia
  75. Molecular (epi) genetics lab, Bioaraba Health Research Institute, Araba University Hospital , Vitoria-Gasteiz, Spain
  76. Department of Psychiatry, Massachusetts General Hospital , Boston , MA , USA
  77. National Heart & Lung Institute & MRC London Institute of Medical Sciences, Imperial College London , London  W12 0HS , UK
  78. Department of Paediatrics, Institute of Developmental and Regenerative Medicine, University of Oxford , Oxford , UK
  79. Universitätsklinikum Carl Gustav Carus, Medizinische Fakultät, TU , Dresden , Germany
  80. Institute of Psychiatric Phenomics and Genomics (IPPG), LMU University Hospital, LMU Munich , Munich , Germany
  81. Department of Psychiatry and Behavioral Sciences, SUNY Upstate Medical University , Syracuse , NY , USA
  82. Department of Psychiatry, Dalhousie University , Halifax , NS , Canada
  83. Exploratory Diagnostic Sciences, Berliner Institut für Gesundheitsforschung - Charité , Berlin , Germany
  84. Department of Ophthalmology, Saarland University Medical Center UKS , Homburg/Saar , Germany
  85. Eisenberg Family Depression Center, University of Michigan , Ann Arbor , MI , USA
  86. Department of Psychiatry and Psychology, Mayo Clinic , Rochester , MN , USA
  87. Human Genetics Institute of New Jersey, Rutgers University , Piscataway , NJ , USA
  88. The National Alliance on Mental Illness , Arlington , VA , USA
  89. Department of Psychological Medicine, Institute of Psychiatry, Psychology & Neuroscience, King's College London , London , UK
  90. Institute for Research and Health Policy Studies, Tufts Medicine , Boston , MA  2111 , USA
  91. Department of Genetics, University Medical Center Groningen , Groningen , Netherlands
  92. Critical Path Institute , Tucson , AZ , USA
  93. National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention , Atlanta, GA, USA
  94. Centre for Regenerative Medicine, Institute for Regeneration and Repair, Institute for Stem Cell Research, University of Edinburgh , Edinburgh , UK
  95. Database Center for Life Science, Joint Support-Center for Data Science Research, Research Organization of Information and Systems , Japan
  96. Psychological Medicine, Institute of Psychiatry, Psychology and Neuroscience, King's College London & South London and Maudsley NHS Foundation Trust, Bethlem Royal Hospital , Monks Orchard Road , Beckenham , Kent , London  SE5 8AF , UK
  97. Department of Human Genetics, Bioscientia Healthcare GmbH , Ingelheim , Germany
  98. Faculty of Medicine and Health, The University of Sydney , Camperdown , Australia
  99. Institute of Human Genetics, Pontificia Universidad Javeriana , Bogotá , Colombia
  100. Ada Health GmbH , Berlin , Germany
+ Show Author Affiliations
The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease, enabling computational inference and supporting genomic and phenotypic analyses through semantic similarity and machine learning algorithms. The HPO has widespread applications in clinical diagnostics and translational research, including genomic diagnostics, gene-disease discovery, and cohort analytics. In recent years, groups around the world have developed translations of the HPO from English to other languages, and the HPO browser has been internationalized, allowing users to view HPO term labels and in many cases synonyms and definitions in ten languages in addition to English. Since our last report, a total of 2239 new HPO terms and 49235 new HPO annotations were developed, many in collaboration with external groups in the fields of psychiatry, arthrogryposis, immunology and cardiology. The Medical Action Ontology (MAxO) is a new effort to model treatments and other measures taken for clinical management. Finally, the HPO consortium is contributing to efforts to integrate the HPO and the GA4GH Phenopacket Schema into electronic health records (EHRs) with the goal of more standardized and computable integration of rare disease data in EHRs.
Research Organization:
Lawrence Berkeley National Laboratory (LBNL), Berkeley, CA (United States)
Sponsoring Organization:
Defense Advanced Research Projects Agency (DARPA); German Research Foundation (DFG); National Institutes of Health (NIH); National Science Foundation (NSF); USDOE Office of Science (SC), Basic Energy Sciences (BES)
Contributing Organization:
HPO Team
Grant/Contract Number:
AC02-05CH11231
OSTI ID:
2356802
Journal Information:
Nucleic Acids Research, Journal Name: Nucleic Acids Research Journal Issue: D1 Vol. 52; ISSN 0305-1048
Publisher:
Oxford University PressCopyright Statement
Country of Publication:
United States
Language:
English

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