Workshops
Since its inception in 2008, the HPO has conducted numerous workshops (“hackathons”) with clinical experts to add content to the HPO for specific areas of medicine. Please contact the HPO team if you would like to work with us on HPO terms for an area of medicine.
Participants in such workshops are invited to join the HPO team as coauthors in our regular database update articles (e.g., PMID:24217912, PMID:27899602, PMID:33264411, PMID:37953324). Additionally, some collaborative groups have published focussed aarticles about the work to which the HPO team has contributed. These many contributions (and many others not listed here) have enormously contributed to the quality of the HPO.
Additionally, several publications led by collaborating groups have appeared about specific topics.
| First author | Title | Citation |
|---|---|---|
| Westbury | Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders | Genome Med 2015 |
| Sergouniotis | An ontological foundation for ocular phenotypes and rare eye diseases | Orphanet J Rare Dis. 2019 |
| Ong | Modelling kidney disease using ontology: insights from the Kidney Precision Medicine Project | Nat Rev Nephrol. 2020 |
| Knoflach K | Diffuse alveolar hemorrhage in children with interstitial lung disease: Determine etiologies! | Pediatr Pulmonol. 2023 |
| Lewis-Smith | Modeling seizures in the Human Phenotype Ontology according to contemporary ILAE concepts makes big phenotypic data tractable | Epilepsia |
| Haimel | Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity | J Allergy Clin Immunol. 2022 |
| Dhombres | Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology | Am J Med Genet C Semin Med Genet. 2022 |
| Morgan | Speech and language classification in the human phenotype ontology | Eur J Hum Genet. 2024 |
| Roberts | Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanisms | Genet Med. 2024 |
| Wyrwoll | Improved phenotypic classification of male infertility to promote discovery of genetic causes | Nat Rev Urol. 2024 |
| Guillod P | A Systematic Approach to Prioritise Diagnostically Useful Findings for Inclusion in Electronic Health Records as Discrete Data to Improve Clinical Artificial Intelligence Tools and Genomic Research | Clin Oncol (R Coll Radiol). 2025 |
| Nematollahi | Human Phenotype Ontology Annotations for Rare Congenital Conditions: Application to Arthrogryposis Multiplex Congenita | Am J Med Genet A. 2025 |
| McInnis | Integrating Knowledge: The Power of Ontologies in Psychiatric Research and Clinical Informatics | Biol Psychiatry. 2025 |
Selection of past workshops
| Date | Location | Topic | Coordination |
|---|---|---|---|
| 2009 | Sanger Institute, Hinxton, England | General review (5 day workshop with multiple topics) | Helen Firth, DECIPHER consortium |
| 2012 | Charité - Universitätsmedizin Berlin, Germany | 2-day workshop in Berlin, Germany, to extend dental terminology in the HPO | Prof. Isabelle Bailleul-Forestier (Paul Sabatier University - Toulouse, France) |
| 2012-2016 | Work to add 80 terms and associated is-a relationships were added to HPO (See PMID:25949529) | Abnormal bleeding | BRIDGE BPD Consortium, Prof. Willem Ouwehand, University of Cambridge |
| 2013 | Charité - Universitätsmedizin Berlin, Germany | Epilepsy phenotypes and EEG abnormalities | Prof. Ingo Helbig |
| 2015 | Cambridge, England | Workshop with the UK's National Institute for Health Research (NIHR) Rare Disease—Translational Research Collaboration (See PMID:27899602) | Patrick Chinnery, Mareike Veltman and Roger James. |
| 2017 | National Institute for Allergy and Infectious Diseases (NIAID-NIH) | Immunology | Morgan Similuk |
| 2017 | Stanford University | Cardiology | Matthew Wheeler |
| 2017 | Mont St. Odile, France | Ophthalmology (See PMID:30626441) | Panagiotis Sergouniotis, European Reference Network for Rare Eye Diseases |
| 2017-2024 | Onsite and virtual workshops | Nephrology (see PMID:32939051 ) | Kidney Precision Medicine Project (KPMP) |
| 2019-2021 | Three workshops, numerous teleconferences, and joint task forces | Inborn errors of immunity (IEI) | ESID (European Society for Immunodeficiencies) |
| 2017-2023 | Virtual workshops | Pulmonology (See PMID:36588100) | ChILD EU, Matthias Griese |
| 2017 | Virtual workshops | Newborn screening (See PMID:33264411) | Newborn Screening Translational Research Network (NBSTRN), Amy Brower |