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.

Ada Health GmbH Berlin Germany

Addenbrooke's Hospital Cambridge University Hospitals Cambridge UK

Bipolar and Depressive Disorders Unit Institute of Neuroscience Hospital Clinic University of Barcelona IDIBAPS CIBERSAM Barcelona Catalonia Spain

Campbell Family Mental Health Research Institute Centre for Addiction and Mental Health Toronto ON Canada

Center for Craniofacial and Dental Genetics Department of Oral and Craniofacial Sciences School of Dental Medicine University of Pittsburgh Pittsburgh PA USA

Center for Genomic Medicine Parc Taulí Hospital Universitari Institut d'Investigació i Innovació Parc Taulí Sabadell Spain

Centre for Regenerative Medicine Institute for Regeneration and Repair Institute for Stem Cell Research University of Edinburgh Edinburgh UK

Centro de Investigaciones en Anomalías Congénitas y Enfermedades Raras Universidad Icesi Cali Colombia

Chinese HPO Consortium Beijing China

College of Public Health and Human Sciences Oregon State University Corvallis OR 97331 USA

Critical Path Institute Tucson AZ USA

Data Collaboration Center Data Science Critical Path Institute Tucson AZ USA

Database Center for Life Science Joint Support Center for Data Science Research Research Organization of Information and Systems Japan

Dauten Family Center for Bipolar Treatment Innovation Massachusetts General Hospital Boston MA USA

Deakin University IMPACT the Institute for Mental and Physical Health and Clinical Translation School of Medicine Barwon Health Geelong Australia

Département 1 and D AP HP Banque Nationale de Données Maladies Rares Paris France

Department of Biology and Medical Genetics 2nd Medical Faculty of Charles University and University Hospital Motol Prague Czech Republic

Department of Biomedical Informatics Columbia University Irving Medical Center NY NY USA

Department of Biomedical Informatics University of Colorado Anschutz Medical Campus Aurora CO 80045 USA

Department of Clinical Research Shriners Hospitals for Children Montreal Quebec Canada

Department of Genetic Medicine Johns Hopkins University School of Medicine Baltimore MD 21287 USA

Department of Genetics University Medical Center Groningen Groningen Netherlands

Department of Human Genetics Bioscientia Healthcare GmbH Ingelheim Germany

Department of Human Genetics Donders Institute for Brain Cognition and Behaviour Radboud University Medical Center Nijmegen Netherlands

Department of Immunology GOS Hospital for Children NHS Foundation Trust University College London London UK

Department of Obstetrics and Gynecology Columbia University Irving Medical Center New York NY USA

Department of Ophthalmology Saarland University Medical Center UKS Homburg Saar Germany

Department of Ophthalmology University Clinic Marburg Campus Fulda Fulda Germany

Department of Paediatrics Institute of Developmental and Regenerative Medicine University of Oxford Oxford UK

Department of Pediatrics Dalhousie University Halifax NS Canada

Department of Pediatrics Dr von Hauner Children's Hospital University Hospital LMU Munich German center for Lung research Munich Germany

Department of Pharmacology and Toxicology University of Toronto Toronto ON Canada

Department of Psychiatry and Behavioral Sciences Johns Hopkins University School of Medicine Baltimore MD 21287 USA

Department of Psychiatry and Behavioral Sciences SUNY Upstate Medical University Syracuse NY USA

Department of Psychiatry and Behavioral Sciences UCSF Weil Institute for Neuroscience San Francisco CA USA

Department of Psychiatry and Psychology Mayo Clinic Rochester MN USA

Department of Psychiatry Brigham and Women's Hospital Harvard Medical School Boston MA USA

Department of Psychiatry Dalhousie University Halifax NS Canada

Department of Psychiatry Feinstein Institutes for Medical Research Northwell Health Manhasset NY USA

Department of Psychiatry Massachusetts General Hospital Boston MA USA

Department of Psychiatry University of British Columbia Vancouver BC Canada

Department of Psychiatry University of Michigan Ann Arbor MI USA

Department of Psychiatry University of Toronto Toronto ON Canada

Department of Psychological Medicine Institute of Psychiatry Psychology and Neuroscience King's College London London UK

Department of Structural and Computational Biology University of Vienna; Max Perutz Labs Vienna Austria

Discipline of Psychiatry and Mental Health School of Clinical Medicine Faculty of Medicine and Health University of New South Wales Sydney NSW Australia

Division of Environmental Genomics and Systems Biology Lawrence Berkeley National Laboratory Berkeley CA 94720 USA

Eisenberg Family Depression Center University of Michigan Ann Arbor MI USA

European Bioinformatics Institute Wellcome Genome Campus Hinxton CB10 1SD UK

Exploratory Diagnostic Sciences Berliner Institut für Gesundheitsforschung Charité Berlin Germany

Faculty of Medicine and Health The University of Sydney Camperdown Australia

Feinstein Institutes for Medical Research Northwell Health Manhasset NY USA

Fetal Medicine Department Armand Trousseau Hospital Sorbonne University GRC26 INSERM Limics Paris France

Harvard Medical School Boston MA USA

Human Genetics Institute of New Jersey Rutgers University Piscataway NJ USA

Immunology NIHR Great Ormond Street Hospital BRC London UK

INGEM ToMMo Tohoku University Sendai Japan

INSERM US14 Orphanet Plateforme Maladies Rares Paris France

Institute for Research and Health Policy Studies Tufts Medicine Boston MA 2111 USA

Institute of Health Information and Statistics of the Czech Republic Prague Czech Republic

Institute of Human Genetics Pontificia Universidad Javeriana Bogotá Colombia

Institute of Medical and Molecular Genetics Hospital Univ La Paz Madrid Spain

Institute of Psychiatric Phenomics and Genomics LMU University Hospital LMU Munich Munich Germany

Khoury College of Computer Sciences Northeastern University Boston MA USA

Massachusetts General Hospital Boston MA USA

Molecular genetics lab Bioaraba Health Research Institute Araba University Hospital Vitoria Gasteiz Spain

National Center on Birth Defects and Developmental Disabilities Centers for Disease Control and Prevention Atlanta GA USA

National Heart and Lung Institute and MRC London Institute of Medical Sciences Imperial College London London W12 0HS UK

National Institute of Allergy and Infectious Diseases National Institutes of Health Bethesda MD 20892 USA

National Institute of Mental Health Klecany Czech Republic

Neurodevelopmental and Behavioral Phenotyping Service National Institute of Mental Health Bethesda MD USA

Neurology Children's Hospital of Philadelphia Philadelphia PA 19104 USA

Neuroscience Research Australia Sydney NSW Australia

Nostos Genomics GmbH Berlin Germany

Okinawa Prefectural Nanbu Medical Center and Children's Medical Center

Psychological Medicine Institute of Psychiatry Psychology and Neuroscience King's College London and South London and Maudsley NHS Foundation Trust Bethlem Royal Hospital Monks Orchard Road Beckenham Kent London SE5 8AF UK

Rare Care Centre Perth Children's Hospital Perth Australia

Rare Disease Ghana Initiative Accra Ghana

Renaissance Computing Institute University of North Carolina Chapel Hill NC 27517 USA

School of Medicine Johns Hopkins University Baltimore MD 21287 USA

School of Physical and Occupational Therapy McGill University Montreal Quebec Canada

Schools of Medicine Public Health and Nursing Johns Hopkins University Baltimore MD 21287 USA

Semanticly Athens Greece

Shriners Children's Northern California Sacramento CA USA

Simon Fraser University Burnaby BC Canada

SNOMED International London W2 6BD UK

St Anna Children's Cancer Research Institute Vienna Austria

St Antoine Hospital Reference Center for Rare Growth Endocrine Disorders Sorbonne University AP HP INSERM US14 Orphanet Plateforme Maladies Rares Paris France

Stark Neurosciences Research Institute Departments of Psychiatry and Medical and Molecular Genetics Indiana University School of Medicine Indianapolis IN USA

The Jackson Laboratory Bar Harbor ME USA

The Jackson Laboratory for Genomic Medicine Farmington CT USA

The National Alliance on Mental Illness Arlington VA USA

Translational and Clinical Research Institute Henry Wellcome Building Framlington Place Newcastle University Newcastle Upon Tyne NE14LP UK

Tranzo TSB Tilburg University Netherlands

UDISGEN 12 de Octubre Hospital Madrid Spain

Universitätsklinikum Carl Gustav Carus Medizinische Fakultät TU Dresden Germany

University of Colorado Anschutz Medical Campus Aurora CO 80045 USA

University of Michigan Medical School Ann Arbor MI USA

William Harvey Research Institute Queen Mary University of London London UK

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Consistent Performance of GPT-4o in Rare Disease Diagnosis Across Nine Languages and 4967 Cases

A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery

A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery