ArticleNucleic acids research2024
The Human Phenotype Ontology in 2024: phenotypes around the world.
Abstract read
In one paragraph
Article in Nucleic acids research, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 269 papers, 3 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
269citing papers in PubMed, 3 pooled it
–field-weighted citation impact
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
269 citing papers in PubMed, 3 syntheses or guidelines pooled it.
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- Systems-level transcriptomic analysis reveals synapse-related gene dysregulation in peripheral leukocytes of MDD patients.Scientific reports · 2026Pooled it
- Genetic and genomic insights into male reproductive tract development.Fertility and sterility · 2025Pooled it
- Genetic Architecture of Pediatric Cardiomyopathies Assessed by Whole-Exome Sequencing: Insights Into Early-Onset and Syndromic Forms.Clinical genetics · 2026Article
- Current translational perspectives for diagnosis and individualized therapy in rare genetic diseases.Communications medicine · 2026Review
- A high-throughput method to computationally develop candidate adverse outcome pathways in humans: a proof of concept with insecticides and Parkinson's Disease.Toxicological sciences : an official journal of the Society of Toxicology · 2026Article
- Expanding the KBG syndrome phenotype through 2D facial morphometry, clinical and molecular characterization.Biomedical reports · 2026Article
- Genetic Burden in Congenital Anomalies of the Mitral and Tricuspid Valves: A Case-Control Study.Pediatric cardiology · 2026Article
- PhenoSS: phenotype semantic similarity-based approach for rare disease prediction and patient clustering.Journal of the American Medical Informatics Association : JAMIA · 2026Article
- The gene-regulatory evolution of the human skeleton.Nature · 2026Article
- Towards a Compositional Framework for Describing Human Phenotypes.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Machine-Readable Database for Genotype-Phenotype Analyses in Rare Diseases Using FKTN-related Congenital Muscular Dystrophies as a Prototype.Research square · 2026Article
- Artificial Intelligence in Pediatric Cardiovascular Genetics: From Multimodal Diagnosis to Risk Prediction and Precision Therapeutics.International journal of molecular sciences · 2026Review
- dicast: a machine learning method for accurate structural variant detection from short-read sequencing data.Genome biology · 2026Article
- MAKAAO, an open access resource linking human autoantibodies and autoimmune diseases.Communications medicine · 2026Article
- dictyBase 2026: a reimplementation of theResearch square · 2026Article
- MNV-aware molecular characterization of a rare homozygous TTPA complex allele in ataxia with vitamin E deficiency.Molecular genetics and genomics : MGG · 2026Article
- AI semantics for biomedical data integration.bioRxiv : the preprint server for biology · 2026Article
- Clinical and molecular characterization of giant axonal neuropathy due to a homozygous c.851 + 1G>A variant inGlobal medical genetics · 2026Article
- The long road to diagnosis: recessive PMPCB deficiency hidden behind a dominant familial VCP defect.Molecular genetics and metabolism reports · 2026Article
209 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
176 authors.
Michael A GarganoThe Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.ORCID 0000-0002-2157-3591
Nicolas MatentzogluSemanticly, Athens, Greece.ORCID 0000-0002-7356-1779
Ben ColemanThe Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.ORCID 0000-0002-4422-1708
Eunice B Addo-LarteyRare Disease Ghana Initiative, Accra, Ghana.
Anna V AnagnostopoulosThe Jackson Laboratory, Bar Harbor, ME, USA.ORCID 0000-0002-6490-7723
Joel AndertonCenter for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, USA.ORCID 0009-0003-0577-5120
Paul AvillachHarvard Medical School, Boston, MA, USA.ORCID 0000-0002-0235-7543
Anita M BagleyShriners Children's Northern California, Sacramento, CA, USA.ORCID 0000-0001-9118-8798
Eduard BakšteinNational Institute of Mental Health, Klecany, Czech Republic.ORCID 0000-0002-4672-4923
James P BalhoffRenaissance Computing Institute, University of North Carolina, Chapel Hill, NC 27517, USA.ORCID 0000-0002-8688-6599
Gareth BaynamRare Care Centre, Perth Children's Hospital, Perth, Australia.
Susan M BelloThe Jackson Laboratory, Bar Harbor, ME, USA.ORCID 0000-0003-4606-0597
Michael BerkDeakin University, IMPACT - the Institute for Mental and Physical Health and Clinical Translation, School of Medicine, Barwon Health, Geelong, Australia.ORCID 0000-0002-5554-6946
Holli BertramDepartment of Psychiatry, University of Michigan, Ann Arbor, MI, USA.ORCID 0000-0001-9446-5121
Somer BishopDepartment of Psychiatry and Behavioral Sciences, UCSF Weil Institute for Neuroscience, San Francisco, CA, USA.ORCID 0000-0002-2592-4715
Hannah BlauThe Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.ORCID 0000-0003-4557-5492
David F BodensteinDepartment of Pharmacology and Toxicology, University of Toronto, Toronto, ON, Canada.ORCID 0000-0003-4618-6544
Pablo BotasNostos Genomics GmbH, Berlin, Germany.ORCID 0000-0001-7090-9648
Kaan BoztugSt. Anna Children's Cancer Research Institute (CCRI), Vienna, Austria.ORCID 0000-0001-8387-9185
Jolana ČadyInstitute of Health Information and Statistics of the Czech Republic, Prague, Czech Republic.ORCID 0009-0007-2341-9591
Tiffany J CallahanDepartment of Biomedical Informatics, Columbia University Irving Medical Center, NY, NY, USA.ORCID 0000-0002-8169-9049
Rhiannon CameronSimon Fraser University, Burnaby, BC, Canada.ORCID 0000-0002-9578-0788
Seth J CarbonDivision of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA.ORCID 0000-0001-8244-1536
Francisco CastellanosThe Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.ORCID 0009-0002-9789-9595
J Harry CaufieldDivision of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA.ORCID 0000-0001-5705-7831
Lauren E ChanCollege of Public Health and Human Sciences, Oregon State University, Corvallis, OR 97331, USA.ORCID 0000-0002-7463-6306
Christopher G ChuteSchools of Medicine, Public Health, and Nursing, Johns Hopkins University, Baltimore, MD 21287, USA.ORCID 0000-0001-5437-2545
Jaime Cruz-RojoUDISGEN (Dysmorphology and Genetics Unit), 12 de Octubre Hospital, Madrid, Spain.ORCID 0000-0002-8999-2821
Noémi Dahan-OlielDepartment of Clinical Research, Shriners Hospitals for Children, Montreal, Quebec, Canada.ORCID 0000-0001-8567-7173
Jon R DavidsShriners Children's Northern California, Sacramento, CA, USA.ORCID 0000-0002-1639-6519
Maud de DieuleveultDépartement I&D, AP-HP, Banque Nationale de Données Maladies Rares, Paris, France.ORCID 0000-0002-3387-1836
Vinicius de SouzaEuropean Bioinformatics Institute (EMBL-EBI), Wellcome Genome Campus, Hinxton CB10 1SD, UK.
Bert B A de VriesDepartment of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands.ORCID 0000-0002-0000-2917
Esther de VriesTranzo, TSB, Tilburg University, Netherlands.ORCID 0000-0003-4311-3550
J Raymond DePauloDepartment of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.ORCID 0000-0001-9221-9226
Beata DerfalviDepartment of Pediatrics, Dalhousie University, Halifax, NS, Canada.ORCID 0000-0001-7272-7119
Ferdinand DhombresFetal Medicine Department, Armand Trousseau Hospital, Sorbonne University, GRC26, INSERM, Limics, Paris, France.ORCID 0000-0003-3246-8727
Claudia Diaz-ByrdDepartment of Psychiatry, University of Michigan, Ann Arbor, MI, USA.ORCID 0000-0002-4487-3589
Alexander J M DingemansDepartment of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands.ORCID 0000-0002-5648-2155
Bruno DonadilleSt Antoine Hospital, Reference Center for Rare Growth Endocrine Disorders, Sorbonne University, AP-HP, INSERM, US14 - Orphanet, Plateforme Maladies Rares, Paris, France.ORCID 0000-0002-5507-4782
Michael DuyzendMassachusetts General Hospital, Boston, MA, USA.ORCID 0000-0002-3941-6447
Reem ElfekyDepartment of Immunology, GOS Hospital for Children NHS Foundation Trust, University College London, London, UK.ORCID 0000-0001-9382-150X
Shahim EssaidDepartment of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.ORCID 0000-0003-2338-2550
Carolina FabrizziINSERM, US14 - Orphanet, Plateforme Maladies Rares, Paris, France.ORCID 0009-0005-6714-5727
Giovanna FicoBipolar and Depressive Disorders Unit, Institute of Neuroscience, Hospital Clinic, University of Barcelona, IDIBAPS, CIBERSAM, Barcelona, Catalonia, Spain.ORCID 0000-0003-1785-7126
Helen V FirthAddenbrooke's Hospital, Cambridge University Hospitals, Cambridge, UK.ORCID 0000-0002-6410-0882
Yun Freudenberg-HuaDepartment of Psychiatry, Feinstein Institutes for Medical Research, Northwell Health, Manhasset, NY, USA.ORCID 0000-0003-3398-7270
Janice M FullertonNeuroscience Research Australia, Sydney, NSW, Australia.ORCID 0000-0003-4014-4490
Davera L GabrielSchool of Medicine, Johns Hopkins University, Baltimore, MD 21287, USA.
Kimberly GilmourImmunology, NIHR Great Ormond Street Hospital BRC, London, UK.ORCID 0000-0003-0285-3958
Jessica GiordanoDepartment of Obstetrics and Gynecology, Columbia University Irving Medical Center, New York, NY, USA.ORCID 0000-0002-2265-0691
Fernando S GoesDepartment of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.ORCID 0000-0001-6262-8264
Rachel Gore MosesNational Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA.ORCID 0000-0002-8253-5441
Ian GreenSNOMED International, London W2 6BD, UK.
Matthias GrieseDepartment of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, German center for Lung research (DZL), Munich, Germany.ORCID 0000-0003-0113-912X
Tudor GrozaRare Care Centre, Perth Children's Hospital, Perth, Australia.ORCID 0000-0003-2267-8333
Weihong GuChinese HPO Consortium, Beijing, China.
Julia GuthrieDepartment of Structural and Computational Biology, University of Vienna; Max Perutz Labs, Vienna, Austria.ORCID 0000-0003-3411-9598
Benjamin GyoriKhoury College of Computer Sciences, Northeastern University, Boston, MA, USA.ORCID 0000-0001-9439-5346
Ada HamoshDepartment of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.ORCID 0000-0002-1780-5230
Marc HanauerINSERM, US14 - Orphanet, Plateforme Maladies Rares, Paris, France.ORCID 0000-0002-6758-2506
Kateřina HanušováInstitute of Health Information and Statistics of the Czech Republic, Prague, Czech Republic.ORCID 0009-0006-9032-1490
Yongqun Oliver HeUniversity of Michigan Medical School, Ann Arbor, MI, USA.ORCID 0000-0001-9189-9661
Harshad HegdeDivision of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA.ORCID 0000-0002-2411-565X
Ingo HelbigNeurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.ORCID 0000-0001-8486-0558
Kateřina HolasováInstitute of Health Information and Statistics of the Czech Republic, Prague, Czech Republic.ORCID 0000-0002-7896-7057
Charles Tapley HoytKhoury College of Computer Sciences, Northeastern University, Boston, MA, USA.ORCID 0000-0003-4423-4370
Shangzhi HuangChinese HPO Consortium, Beijing, China.
Eric HurwitzUniversity of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.ORCID 0000-0002-6581-7754
Julius O B JacobsenWilliam Harvey Research Institute, Queen Mary University of London, London, UK.ORCID 0000-0002-3265-1591
Xiaofeng JiangChinese HPO Consortium, Beijing, China.
Lisa JosephNeurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, Bethesda, MD, USA.ORCID 0000-0001-6862-3616
Kamyar KeramatianDepartment of Psychiatry, University of British Columbia, Vancouver, BC, Canada.ORCID 0000-0003-4958-6025
Bryan KingDepartment of Psychiatry and Behavioral Sciences, UCSF Weil Institute for Neuroscience, San Francisco, CA, USA.ORCID 0000-0003-3777-1389
Katrin KnoflachDepartment of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, German center for Lung research (DZL), Munich, Germany.ORCID 0000-0002-0104-692X
David A KoolenDepartment of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands.ORCID 0000-0002-2152-4626
Megan L KrausUniversity of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.ORCID 0000-0003-4830-7530
Carlo KrollWilliam Harvey Research Institute, Queen Mary University of London, London, UK.
Maaike KustersImmunology, NIHR Great Ormond Street Hospital BRC, London, UK.ORCID 0000-0001-7601-9822
Markus S LadewigDepartment of Ophthalmology, University Clinic Marburg - Campus Fulda, Fulda, Germany.ORCID 0000-0002-6601-4486
David LagorceINSERM, US14 - Orphanet, Plateforme Maladies Rares, Paris, France.ORCID 0000-0002-7356-7986
Meng-Chuan LaiCampbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON, Canada.ORCID 0000-0002-9593-5508
Pablo LapunzinaInstitute of Medical and Molecular Genetics, Hospital Univ. La Paz, Madrid, Spain.ORCID 0000-0002-6324-4825
Bryan LarawayUniversity of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.ORCID 0000-0002-0450-7074
David Lewis-SmithTranslational and Clinical Research Institute, Henry Wellcome Building, Framlington Place, Newcastle University, Newcastle-Upon-Tyne NE14LP, UK.ORCID 0000-0002-1735-8178
Xiarong LiChinese HPO Consortium, Beijing, China.
Caterina LucanoINSERM, US14 - Orphanet, Plateforme Maladies Rares, Paris, France.ORCID 0009-0008-3646-7469
Marzieh MajdDepartment of Psychiatry, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.ORCID 0000-0002-7367-663X
Mary L MarazitaCenter for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, USA.ORCID 0000-0002-2648-2832
Victor Martinez-GlezCenter for Genomic Medicine, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí (I3PT-CERCA), Sabadell, Spain.ORCID 0000-0002-4680-881X
Toby H McHenryCenter for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, USA.
Melvin G McInnisDepartment of Psychiatry, University of Michigan, Ann Arbor, MI, USA.ORCID 0000-0002-0375-6247
Julie A McMurryUniversity of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.ORCID 0000-0002-9353-5498
Michaela MihulováDepartment of Biology and Medical Genetics, 2nd Medical Faculty of Charles University and University Hospital Motol, Prague, Czech Republic.ORCID 0000-0003-0213-0530
Caitlin E MillettFeinstein Institutes for Medical Research, Northwell Health, Manhasset, NY, USA.ORCID 0000-0003-0072-5522
Philip B MitchellDiscipline of Psychiatry & Mental Health, School of Clinical Medicine, Faculty of Medicine & Health, University of New South Wales, Sydney, NSW, Australia.ORCID 0000-0002-7954-5235
Veronika MoslerováDepartment of Biology and Medical Genetics, 2nd Medical Faculty of Charles University and University Hospital Motol, Prague, Czech Republic.ORCID 0000-0003-0194-8162
Kenji NarutomiOkinawa Prefectural Nanbu Medical Center & Children's Medical Center.
Shahrzad NematollahiSchool of Physical and Occupational Therapy, McGill University, Montreal, Quebec, Canada.ORCID 0000-0003-1248-7306
Julian NevadoInstitute of Medical and Molecular Genetics, Hospital Univ. La Paz, Madrid, Spain.ORCID 0000-0001-5611-2659
Andrew A NierenbergDauten Family Center for Bipolar Treatment Innovation, Massachusetts General Hospital, Boston, MA, USA.ORCID 0000-0003-2897-0458
Nikola Novák ČajbikováDepartment of Biology and Medical Genetics, 2nd Medical Faculty of Charles University and University Hospital Motol, Prague, Czech Republic.ORCID 0009-0009-4232-1420
John I NurnbergerStark Neurosciences Research Institute, Departments of Psychiatry and Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.ORCID 0000-0002-7674-1767
Soichi OgishimaINGEM/ToMMo, Tohoku University, Sendai, Japan.ORCID 0000-0001-8613-2562
Daniel OlsonData Collaboration Center, Data Science, Critical Path Institute, Tucson, AZ, USA.ORCID 0000-0002-8134-1207
Abigail OrtizDepartment of Psychiatry, University of Toronto, Toronto, ON, Canada.ORCID 0000-0001-6886-767X
Harry PachajoaCentro de Investigaciones en Anomalías Congénitas y Enfermedades Raras (CIACER), Universidad Icesi, Cali, Colombia.ORCID 0000-0003-2672-0439
Guiomar Perez de NanclaresMolecular (epi) genetics lab, Bioaraba Health Research Institute, Araba University Hospital, Vitoria-Gasteiz, Spain.ORCID 0000-0002-2424-5294
Amy PetersDepartment of Psychiatry, Massachusetts General Hospital, Boston, MA, USA.ORCID 0000-0003-0224-647X
Tim PutmanUniversity of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.ORCID 0000-0002-4291-0737
Christina K RappDepartment of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, German center for Lung research (DZL), Munich, Germany.
Ana RathINSERM, US14 - Orphanet, Plateforme Maladies Rares, Paris, France.ORCID 0000-0003-4308-6337
Justin ReeseDivision of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA.ORCID 0000-0002-2170-2250
Lauren RekerleThe Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.ORCID 0000-0003-2598-6622
Angharad M RobertsNational Heart & Lung Institute & MRC London Institute of Medical Sciences, Imperial College London, London W12 0HS, UK.
Suzy RoySNOMED International, London W2 6BD, UK.
Stephan J SandersDepartment of Paediatrics, Institute of Developmental and Regenerative Medicine, University of Oxford, Oxford, UK.ORCID 0000-0001-9112-5148
Catharina SchuetzUniversitätsklinikum Carl Gustav Carus, Medizinische Fakultät, TU, Dresden, Germany.ORCID 0000-0001-8731-8924
Eva C SchulteInstitute of Psychiatric Phenomics and Genomics (IPPG), LMU University Hospital, LMU Munich, Munich, Germany.ORCID 0000-0003-3105-5672
Thomas G SchulzeDepartment of Psychiatry and Behavioral Sciences, SUNY Upstate Medical University, Syracuse, NY, USA.ORCID 0000-0001-6624-2975
Martin SchwarzDepartment of Biology and Medical Genetics, 2nd Medical Faculty of Charles University and University Hospital Motol, Prague, Czech Republic.ORCID 0000-0002-5585-8376
Katie ScottDepartment of Psychiatry, Dalhousie University, Halifax, NS, Canada.ORCID 0000-0001-5395-5036
Dominik SeelowExploratory Diagnostic Sciences, Berliner Institut für Gesundheitsforschung - Charité, Berlin, Germany.ORCID 0000-0002-9746-4412
Berthold SeitzDepartment of Ophthalmology, Saarland University Medical Center UKS, Homburg/Saar, Germany.ORCID 0000-0001-9701-8204
Yiping ShenChinese HPO Consortium, Beijing, China.
Morgan N SimilukNational Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA.ORCID 0000-0002-0403-2689
Eric S SimonEisenberg Family Depression Center, University of Michigan, Ann Arbor, MI, USA.ORCID 0000-0002-4691-7362
Balwinder SinghDepartment of Psychiatry and Psychology, Mayo Clinic, Rochester, MN, USA.ORCID 0000-0001-7062-8192
Damian SmedleyWilliam Harvey Research Institute, Queen Mary University of London, London, UK.ORCID 0000-0002-5836-9850
Cynthia L SmithThe Jackson Laboratory, Bar Harbor, ME, USA.ORCID 0000-0003-3691-0324
Jake T SmolinskyHuman Genetics Institute of New Jersey, Rutgers University, Piscataway, NJ, USA.ORCID 0009-0004-0873-4444
Sarah SperryDepartment of Psychiatry, University of Michigan, Ann Arbor, MI, USA.ORCID 0000-0002-1111-7357
Elizabeth StaffordThe National Alliance on Mental Illness, Arlington, VA, USA.ORCID 0000-0002-2414-5605
Ray StefancsikEuropean Bioinformatics Institute (EMBL-EBI), Wellcome Genome Campus, Hinxton CB10 1SD, UK.ORCID 0000-0001-8314-2140
Robin SteinhausExploratory Diagnostic Sciences, Berliner Institut für Gesundheitsforschung - Charité, Berlin, Germany.ORCID 0000-0001-6613-4675
Rebecca StrawbridgeDepartment of Psychological Medicine, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK.ORCID 0000-0002-2984-1124
Jagadish Chandrabose SundaramurthiThe Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.ORCID 0000-0002-6670-9157
Polina TalapovaInstitute for Research and Health Policy Studies, Tufts Medicine, Boston, MA 2111, USA.ORCID 0000-0003-4147-1485
Jair A Tenorio CastanoInstitute of Medical and Molecular Genetics, Hospital Univ. La Paz, Madrid, Spain.ORCID 0000-0002-5308-2316
Pavel TesnerDepartment of Biology and Medical Genetics, 2nd Medical Faculty of Charles University and University Hospital Motol, Prague, Czech Republic.ORCID 0000-0001-6033-2953
Rhys H ThomasTranslational and Clinical Research Institute, Henry Wellcome Building, Framlington Place, Newcastle University, Newcastle-Upon-Tyne NE14LP, UK.ORCID 0000-0003-2062-8623
Audrey ThurmNeurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, Bethesda, MD, USA.ORCID 0000-0002-0489-9485
Marek TurnovecDepartment of Biology and Medical Genetics, 2nd Medical Faculty of Charles University and University Hospital Motol, Prague, Czech Republic.ORCID 0000-0001-9497-3919
Marielle E van GijnDepartment of Genetics, University Medical Center Groningen, Groningen, Netherlands.ORCID 0000-0002-1073-0539
Nicole A VasilevskyCritical Path Institute, Tucson, AZ, USA.ORCID 0000-0001-5208-3432
Markéta VlčkováDepartment of Biology and Medical Genetics, 2nd Medical Faculty of Charles University and University Hospital Motol, Prague, Czech Republic.ORCID 0000-0002-1496-392X
Anita WaldenDepartment of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.ORCID 0000-0002-3327-7423
Kai WangChinese HPO Consortium, Beijing, China.ORCID 0000-0002-5585-982X
Ron WapnerDepartment of Obstetrics and Gynecology, Columbia University Irving Medical Center, New York, NY, USA.ORCID 0000-0003-0727-1244
James S WareNational Heart & Lung Institute & MRC London Institute of Medical Sciences, Imperial College London, London W12 0HS, UK.ORCID 0000-0002-6110-5880
Addo A WiafeRare Disease Ghana Initiative, Accra, Ghana.
Samuel A WiafeRare Disease Ghana Initiative, Accra, Ghana.ORCID 0000-0003-2125-2285
Lisa D WigginsNational Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA, USA.ORCID 0000-0001-9283-7294
Andrew E WilliamsInstitute for Research and Health Policy Studies, Tufts Medicine, Boston, MA 2111, USA.ORCID 0000-0002-0692-412X
Chen WuChinese HPO Consortium, Beijing, China.
Margot J WyrwollCentre for Regenerative Medicine, Institute for Regeneration and Repair, Institute for Stem Cell Research, University of Edinburgh, Edinburgh, UK.ORCID 0000-0002-7651-2403
Hui XiongChinese HPO Consortium, Beijing, China.
Nefize YalinDepartment of Psychological Medicine, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK.ORCID 0000-0003-4298-5074
Yasunori YamamotoDatabase Center for Life Science, Joint Support-Center for Data Science Research, Research Organization of Information and Systems, Japan.ORCID 0000-0002-6943-6887
Lakshmi N YathamDepartment of Psychiatry, University of British Columbia, Vancouver, BC, Canada.ORCID 0000-0002-7405-0954
Anastasia K YocumDepartment of Psychiatry, University of Michigan, Ann Arbor, MI, USA.ORCID 0000-0002-1592-0825
Allan H YoungPsychological 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.ORCID 0000-0003-2291-6952
Zafer YükselDepartment of Human Genetics, Bioscientia Healthcare GmbH, Ingelheim, Germany.ORCID 0000-0002-2085-5773
Peter P ZandiDepartment of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.ORCID 0000-0001-8423-2623
Andreas ZanklFaculty of Medicine and Health, The University of Sydney, Camperdown, Australia.ORCID 0000-0001-8612-1062
Ignacio ZaranteInstitute of Human Genetics, Pontificia Universidad Javeriana, Bogotá, Colombia.ORCID 0000-0002-0729-6866
Miroslav ZvolskýInstitute of Health Information and Statistics of the Czech Republic, Prague, Czech Republic.ORCID 0000-0001-9252-7317
Sabrina ToroUniversity of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.ORCID 0000-0002-4142-7153
Leigh C CarmodyThe Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.ORCID 0000-0001-7941-2961
Nomi L HarrisDivision of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA.ORCID 0000-0001-6315-3707
Monica C Munoz-TorresDepartment of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.ORCID 0000-0001-8430-6039
Daniel DanisThe Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.ORCID 0000-0003-0900-3411
Christopher J MungallDivision of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA.ORCID 0000-0002-6601-2165
Sebastian KöhlerAda Health GmbH, Berlin, Germany.ORCID 0000-0002-5316-1399
Melissa A HaendelUniversity of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.ORCID 0000-0001-9114-8737
Peter N RobinsonThe Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.ORCID 0000-0002-0736-9199
Funding
NIMH Center Repository Supporting Stem Cell ResearchU24MH068457 · NIMH · RUTGERS THE ST UNIV OF NJ NEW BRUNSWICK · PI BRZUSTOWICZ, LINDA M, KNOWLES, JAMES A · 2003 to 2024
$213.8MTraining in Biomedical Informatics at Columbia UniversityT15LM007079 · NLM · COLUMBIA UNIV NEW YORK MORNINGSIDE · PI NOEMIE ELHADAD, GEORGE M HRIPCSAK · 1992 to 2026
$28.9MCD2H - The National COVID Cohort Collaborative (N3C) IDeA CTR CollaborationU24TR002306 · NCATS · UNIVERSITY OF COLORADO DENVER · PI CHUTE, CHRISTOPHER G, EICHMANN, DAVID A. · 2017 to 2021
$28.9MCentral Sequencing InitiativeZICAI001244 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI HOLLAND, STEVEN · 2019 to 2025
$24.0MThe Monarch Initiative: Linking Diseases to Model Organism ResourcesR24OD011883 · OD · UNIV OF NORTH CAROLINA CHAPEL HILL · PI HAENDEL, MELISSA A, MUNGALL, CHRISTOPHER J · 2012 to 2024
$16.0MNeurodevelopmental and Behavioral Phenotyping ZICMH002961 · NIMH · NATIONAL INSTITUTE OF MENTAL HEALTH · PI THURM, AUDREY · 2017 to 2025
$12.6MComputational Bioscience Program Training GrantT15LM009451 · NLM · UNIVERSITY OF COLORADO DENVER · PI Katherina Kechris-Mays, Arjun Krishnan · 2007 to 2026
$11.7MImprovements to the LinkML framework to support the Phenomics First open science resourceRM1HG010860 · NHGRI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI HAENDEL, MELISSA A, MUNGALL, CHRISTOPHER J · 2020 to 2024
$10.3MThe Human Phenotype Ontology: Accelerating Computational Integration of Clinical Data for GenomicsU24HG011449 · NHGRI · JACKSON LABORATORY · PI Peter Nicholas Robinson · 2021 to 2026
$6.7MTraining in Translational Research of Skin DiseasesT32AR007411 · NIAMS · UNIVERSITY OF COLORADO DENVER · PI ASGARI, MARYAM MANDANA, ROOP, DENNIS · 1986 to 2025
$4.8MThe Genomic Architecture of Pregnancy LossR01HD105266 · NICHD · MASSACHUSETTS GENERAL HOSPITAL · PI TALKOWSKI, MICHAEL E, WAPNER, RONALD · 2021 to 2024
$3.1MA computational phenotyping approach to characterize neurogenetic disordersR01NS131512 · NINDS · CHILDREN'S HOSP OF PHILADELPHIA · PI Ingo Helbig · 2023 to 2026
$2.8MBritish Heart Foundation FS/CRLF/21/23011Medical Research Council MC_UP_1102/20NCATS NIH HHS NCATS U24 TR002306NCATS NIH HHS U24 TR002306NCI NIH HHS U13 CA221044NHGRI NIH HHS 7RM1HG010860-02NHGRI NIH HHS RM1 HG010860NHGRI NIH HHS U24 HG011449NIAMS NIH HHS T32 AR007411NIA NIH HHS K08 AG054727NICHD NIH HHS F32 HD112084NICHD NIH HHS R01 HD105266NICHD NIH HHS R01HD105266NIDCR NIH HHS R03 DE032062NIDCR NIH HHS R03-DE032062NIH HHS 5U24HG011449-03NIH HHS R24 OD011883NIMH NIH HHS K01 MH137689NIMH NIH HHS R01 MH129751NIMH NIH HHS U24 MH068457NINDS NIH HHS K02 NS112600NINDS NIH HHS R01 NS131512NLM NIH HHS T15 LM007079NLM NIH HHS T15 LM009451NLM NIH HHS T15LM009451Wellcome TrustWellcome Trust 203914/Z/16/Z
Abstract
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.
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Biological OntologiesAlgorithmsGenomicsHumansPhenotypeRare Diseases
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.