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The Human Phenotype Ontology in 2024: phenotypes around the world.

التفاصيل البيبلوغرافية
العنوان: The Human Phenotype Ontology in 2024: phenotypes around the world.
المؤلفون: Gargano MA; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA., Matentzoglu N; Semanticly, Athens, Greece., Coleman B; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA., Addo-Lartey EB; Rare Disease Ghana Initiative, Accra, Ghana., Anagnostopoulos AV; The Jackson Laboratory, Bar Harbor, ME, USA., Anderton J; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, USA., Avillach P; Harvard Medical School, Boston, MA, USA., Bagley AM; Shriners Children's Northern California, Sacramento, CA, USA., Bakštein E; National Institute of Mental Health, Klecany, Czech Republic., Balhoff JP; Renaissance Computing Institute, University of North Carolina, Chapel Hill, NC 27517, USA., Baynam G; Rare Care Centre, Perth Children's Hospital, Perth, Australia., Bello SM; The Jackson Laboratory, Bar Harbor, ME, USA., Berk M; Deakin University, IMPACT - the Institute for Mental and Physical Health and Clinical Translation, School of Medicine, Barwon Health, Geelong, Australia., Bertram H; Department of Psychiatry, University of Michigan, Ann Arbor, MI, USA., Bishop S; Department of Psychiatry and Behavioral Sciences, UCSF Weil Institute for Neuroscience, San Francisco, CA, USA., Blau H; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA., Bodenstein DF; Department of Pharmacology and Toxicology, University of Toronto, Toronto, ON, Canada., Botas P; Nostos Genomics GmbH, Berlin, Germany., Boztug K; St. Anna Children's Cancer Research Institute (CCRI), Vienna, Austria., Čady J; Institute of Health Information and Statistics of the Czech Republic, Prague, Czech Republic., Callahan TJ; Department of Biomedical Informatics, Columbia University Irving Medical Center, NY, NY, USA., Cameron R; Simon Fraser University, Burnaby, BC, Canada., Carbon SJ; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA., Castellanos F; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA., Caufield JH; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA., Chan LE; College of Public Health and Human Sciences, Oregon State University, Corvallis, OR 97331, USA., Chute CG; Schools of Medicine, Public Health, and Nursing, Johns Hopkins University, Baltimore, MD 21287, USA., Cruz-Rojo J; UDISGEN (Dysmorphology and Genetics Unit), 12 de Octubre Hospital, Madrid, Spain., Dahan-Oliel N; Department of Clinical Research, Shriners Hospitals for Children, Montreal, Quebec, Canada., Davids JR; Shriners Children's Northern California, Sacramento, CA, USA., de Dieuleveult M; Département I&D, AP-HP, Banque Nationale de Données Maladies Rares, Paris, France., de Souza V; European Bioinformatics Institute (EMBL-EBI), Wellcome Genome Campus, Hinxton CB10 1SD, UK., de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands., de Vries E; Tranzo, TSB, Tilburg University, Netherlands., DePaulo JR; Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA., Derfalvi B; Department of Pediatrics, Dalhousie University, Halifax, NS, Canada., Dhombres F; Fetal Medicine Department, Armand Trousseau Hospital, Sorbonne University, GRC26, INSERM, Limics, Paris, France., Diaz-Byrd C; Department of Psychiatry, University of Michigan, Ann Arbor, MI, USA., Dingemans AJM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands., Donadille B; St Antoine Hospital, Reference Center for Rare Growth Endocrine Disorders, Sorbonne University, AP-HP, INSERM, US14 - Orphanet, Plateforme Maladies Rares, Paris, France., Duyzend M; Massachusetts General Hospital, Boston, MA, USA., Elfeky R; Department of Immunology, GOS Hospital for Children NHS Foundation Trust, University College London, London, UK., Essaid S; Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Fabrizzi C; INSERM, US14 - Orphanet, Plateforme Maladies Rares, Paris, France., Fico G; Bipolar and Depressive Disorders Unit, Institute of Neuroscience, Hospital Clinic, University of Barcelona, IDIBAPS, CIBERSAM, Barcelona, Catalonia, Spain., Firth HV; Addenbrooke's Hospital, Cambridge University Hospitals, Cambridge, UK., Freudenberg-Hua Y; Department of Psychiatry, Feinstein Institutes for Medical Research, Northwell Health, Manhasset, NY, USA., Fullerton JM; Neuroscience Research Australia, Sydney, NSW, Australia., Gabriel DL; School of Medicine, Johns Hopkins University, Baltimore, MD 21287, USA., Gilmour K; Immunology, NIHR Great Ormond Street Hospital BRC, London, UK., Giordano J; Department of Obstetrics and Gynecology, Columbia University Irving Medical Center, New York, NY, USA., Goes FS; Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA., Moses RG; National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA., Green I; SNOMED International, London W2 6BD, UK., Griese M; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, German center for Lung research (DZL), Munich, Germany., Groza T; Rare Care Centre, Perth Children's Hospital, Perth, Australia., Gu W; Chinese HPO Consortium, Beijing, China., Guthrie J; Department of Structural and Computational Biology, University of Vienna; Max Perutz Labs, Vienna, Austria., Gyori B; Khoury College of Computer Sciences, Northeastern University, Boston, MA, USA., Hamosh A; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA., Hanauer M; INSERM, US14 - Orphanet, Plateforme Maladies Rares, Paris, France., Hanušová K; Institute of Health Information and Statistics of the Czech Republic, Prague, Czech Republic., He YO; University of Michigan Medical School, Ann Arbor, MI, USA., Hegde H; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA., Helbig I; Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Holasová K; Institute of Health Information and Statistics of the Czech Republic, Prague, Czech Republic., Hoyt CT; Khoury College of Computer Sciences, Northeastern University, Boston, MA, USA., Huang S; Chinese HPO Consortium, Beijing, China., Hurwitz E; University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Jacobsen JOB; William Harvey Research Institute, Queen Mary University of London, London, UK., Jiang X; Chinese HPO Consortium, Beijing, China., Joseph L; Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, Bethesda, MD, USA., Keramatian K; Department of Psychiatry, University of British Columbia, Vancouver, BC, Canada., King B; Department of Psychiatry and Behavioral Sciences, UCSF Weil Institute for Neuroscience, San Francisco, CA, USA., Knoflach K; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, German center for Lung research (DZL), Munich, Germany., Koolen DA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands., Kraus ML; University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Kroll C; William Harvey Research Institute, Queen Mary University of London, London, UK., Kusters M; Immunology, NIHR Great Ormond Street Hospital BRC, London, UK., Ladewig MS; Department of Ophthalmology, University Clinic Marburg - Campus Fulda, Fulda, Germany., Lagorce D; INSERM, US14 - Orphanet, Plateforme Maladies Rares, Paris, France., Lai MC; Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON, Canada., Lapunzina P; Institute of Medical and Molecular Genetics, Hospital Univ. La Paz, Madrid, Spain., Laraway B; University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Lewis-Smith D; Translational and Clinical Research Institute, Henry Wellcome Building, Framlington Place, Newcastle University, Newcastle-Upon-Tyne NE14LP, UK., Li X; Chinese HPO Consortium, Beijing, China., Lucano C; INSERM, US14 - Orphanet, Plateforme Maladies Rares, Paris, France., Majd M; Department of Psychiatry, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA., Marazita ML; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, USA., Martinez-Glez V; Center for Genomic Medicine, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí (I3PT-CERCA), Sabadell, Spain., McHenry TH; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, USA., McInnis MG; Department of Psychiatry, University of Michigan, Ann Arbor, MI, USA., McMurry JA; University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Mihulová M; Department of Biology and Medical Genetics, 2nd Medical Faculty of Charles University and University Hospital Motol, Prague, Czech Republic., Millett CE; Feinstein Institutes for Medical Research, Northwell Health, Manhasset, NY, USA., Mitchell PB; Discipline of Psychiatry & Mental Health, School of Clinical Medicine, Faculty of Medicine & Health, University of New South Wales, Sydney, NSW, Australia., Moslerová V; Department of Biology and Medical Genetics, 2nd Medical Faculty of Charles University and University Hospital Motol, Prague, Czech Republic., Narutomi K; Okinawa Prefectural Nanbu Medical Center & Children's Medical Center., Nematollahi S; School of Physical and Occupational Therapy, McGill University, Montreal, Quebec, Canada., Nevado J; Institute of Medical and Molecular Genetics, Hospital Univ. La Paz, Madrid, Spain., Nierenberg AA; Dauten Family Center for Bipolar Treatment Innovation, Massachusetts General Hospital, Boston, MA, USA., Čajbiková NN; Department of Biology and Medical Genetics, 2nd Medical Faculty of Charles University and University Hospital Motol, Prague, Czech Republic., Nurnberger JI Jr; Stark Neurosciences Research Institute, Departments of Psychiatry and Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA., Ogishima S; INGEM/ToMMo, Tohoku University, Sendai, Japan., Olson D; Data Collaboration Center, Data Science, Critical Path Institute, Tucson, AZ, USA., Ortiz A; Department of Psychiatry, University of Toronto, Toronto, ON, Canada., Pachajoa H; Centro de Investigaciones en Anomalías Congénitas y Enfermedades Raras (CIACER), Universidad Icesi, Cali, Colombia., Perez de Nanclares G; Molecular (epi) genetics lab, Bioaraba Health Research Institute, Araba University Hospital, Vitoria-Gasteiz, Spain., Peters A; Department of Psychiatry, Massachusetts General Hospital, Boston, MA, USA., Putman T; University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Rapp CK; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, German center for Lung research (DZL), Munich, Germany., Rath A; INSERM, US14 - Orphanet, Plateforme Maladies Rares, Paris, France., Reese J; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA., Rekerle L; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA., Roberts AM; National Heart & Lung Institute & MRC London Institute of Medical Sciences, Imperial College London, London W12 0HS, UK., Roy S; SNOMED International, London W2 6BD, UK., Sanders SJ; Department of Paediatrics, Institute of Developmental and Regenerative Medicine, University of Oxford, Oxford, UK., Schuetz C; Universitätsklinikum Carl Gustav Carus, Medizinische Fakultät, TU, Dresden, Germany., Schulte EC; Institute of Psychiatric Phenomics and Genomics (IPPG), LMU University Hospital, LMU Munich, Munich, Germany., Schulze TG; Department of Psychiatry and Behavioral Sciences, SUNY Upstate Medical University, Syracuse, NY, USA., Schwarz M; Department of Biology and Medical Genetics, 2nd Medical Faculty of Charles University and University Hospital Motol, Prague, Czech Republic., Scott K; Department of Psychiatry, Dalhousie University, Halifax, NS, Canada., Seelow D; Exploratory Diagnostic Sciences, Berliner Institut für Gesundheitsforschung - Charité, Berlin, Germany., Seitz B; Department of Ophthalmology, Saarland University Medical Center UKS, Homburg/Saar, Germany., Shen Y; Chinese HPO Consortium, Beijing, China., Similuk MN; National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA., Simon ES; Eisenberg Family Depression Center, University of Michigan, Ann Arbor, MI, USA., Singh B; Department of Psychiatry and Psychology, Mayo Clinic, Rochester, MN, USA., Smedley D; William Harvey Research Institute, Queen Mary University of London, London, UK., Smith CL; The Jackson Laboratory, Bar Harbor, ME, USA., Smolinsky JT; Human Genetics Institute of New Jersey, Rutgers University, Piscataway, NJ, USA., Sperry S; Department of Psychiatry, University of Michigan, Ann Arbor, MI, USA., Stafford E; The National Alliance on Mental Illness, Arlington, VA, USA., Stefancsik R; European Bioinformatics Institute (EMBL-EBI), Wellcome Genome Campus, Hinxton CB10 1SD, UK., Steinhaus R; Exploratory Diagnostic Sciences, Berliner Institut für Gesundheitsforschung - Charité, Berlin, Germany., Strawbridge R; Department of Psychological Medicine, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK., Sundaramurthi JC; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA., Talapova P; Institute for Research and Health Policy Studies, Tufts Medicine, Boston, MA 2111, USA., Tenorio Castano JA; Institute of Medical and Molecular Genetics, Hospital Univ. La Paz, Madrid, Spain., Tesner P; Department of Biology and Medical Genetics, 2nd Medical Faculty of Charles University and University Hospital Motol, Prague, Czech Republic., Thomas RH; Translational and Clinical Research Institute, Henry Wellcome Building, Framlington Place, Newcastle University, Newcastle-Upon-Tyne NE14LP, UK., Thurm A; Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, Bethesda, MD, USA., Turnovec M; Department of Biology and Medical Genetics, 2nd Medical Faculty of Charles University and University Hospital Motol, Prague, Czech Republic., van Gijn ME; Department of Genetics, University Medical Center Groningen, Groningen, Netherlands., Vasilevsky NA; Critical Path Institute, Tucson, AZ, USA., Vlčková M; Department of Biology and Medical Genetics, 2nd Medical Faculty of Charles University and University Hospital Motol, Prague, Czech Republic., Walden A; Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Wang K; Chinese HPO Consortium, Beijing, China., Wapner R; Department of Obstetrics and Gynecology, Columbia University Irving Medical Center, New York, NY, USA., Ware JS; National Heart & Lung Institute & MRC London Institute of Medical Sciences, Imperial College London, London W12 0HS, UK., Wiafe AA; Rare Disease Ghana Initiative, Accra, Ghana., Wiafe SA; Rare Disease Ghana Initiative, Accra, Ghana., Wiggins LD; National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA, USA., Williams AE; Institute for Research and Health Policy Studies, Tufts Medicine, Boston, MA 2111, USA., Wu C; Chinese HPO Consortium, Beijing, China., Wyrwoll MJ; Centre for Regenerative Medicine, Institute for Regeneration and Repair, Institute for Stem Cell Research, University of Edinburgh, Edinburgh, UK., Xiong H; Chinese HPO Consortium, Beijing, China., Yalin N; Department of Psychological Medicine, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK., Yamamoto Y; Database Center for Life Science, Joint Support-Center for Data Science Research, Research Organization of Information and Systems, Japan., Yatham LN; Department of Psychiatry, University of British Columbia, Vancouver, BC, Canada., Yocum AK; Department of Psychiatry, University of Michigan, Ann Arbor, MI, USA., Young AH; 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., Yüksel Z; Department of Human Genetics, Bioscientia Healthcare GmbH, Ingelheim, Germany., Zandi PP; Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA., Zankl A; Faculty of Medicine and Health, The University of Sydney, Camperdown, Australia., Zarante I; Institute of Human Genetics, Pontificia Universidad Javeriana, Bogotá, Colombia., Zvolský M; Institute of Health Information and Statistics of the Czech Republic, Prague, Czech Republic., Toro S; University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Carmody LC; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA., Harris NL; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA., Munoz-Torres MC; Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Danis D; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA., Mungall CJ; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA., Köhler S; Ada Health GmbH, Berlin, Germany., Haendel MA; University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Robinson PN; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.
المصدر: Nucleic acids research [Nucleic Acids Res] 2024 Jan 05; Vol. 52 (D1), pp. D1333-D1346.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0411011 Publication Model: Print Cited Medium: Internet ISSN: 1362-4962 (Electronic) Linking ISSN: 03051048 NLM ISO Abbreviation: Nucleic Acids Res Subsets: MEDLINE
أسماء مطبوعة: Publication: 1992- : Oxford : Oxford University Press
Original Publication: London, Information Retrieval ltd.
مواضيع طبية MeSH: Biological Ontologies*, Humans ; Phenotype ; Genomics ; Algorithms ; Rare Diseases
مستخلص: 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.
(© The Author(s) 2023. Published by Oxford University Press on behalf of Nucleic Acids Research.)
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معلومات مُعتمدة: U13 CA221044 United States CA NCI NIH HHS; T15 LM007079 United States LM NLM NIH HHS; 7RM1HG010860-02 United States HG NHGRI NIH HHS; R03 DE032062 United States DE NIDCR NIH HHS; R24 OD011883 United States OD NIH HHS; United Kingdom WT_ Wellcome Trust; F32 HD112084 United States HD NICHD NIH HHS; RM1 HG010860 United States HG NHGRI NIH HHS; T15LM009451 United States LM NLM NIH HHS; NCATS U24 TR002306 United States TR NCATS NIH HHS; R01 MH129751 United States MH NIMH NIH HHS; 203914/Z/16/Z United Kingdom WT_ Wellcome Trust; MC_UP_1102/20 United Kingdom MRC_ Medical Research Council; R01HD105266 United States HD NICHD NIH HHS; FS/CRLF/21/23011 United Kingdom BHF_ British Heart Foundation; R03-DE032062 United States DE NIDCR NIH HHS; U24 MH068457 United States MH NIMH NIH HHS; U24 HG011449 United States HG NHGRI NIH HHS; R01 HD105266 United States HD NICHD NIH HHS; U01 MH111662 United States MH NIMH NIH HHS; U24 TR002306 United States TR NCATS NIH HHS; K08 AG054727 United States AG NIA NIH HHS; 5U24HG011449-03 United States GF NIH HHS
تواريخ الأحداث: Date Created: 20231112 Date Completed: 20240108 Latest Revision: 20240615
رمز التحديث: 20240615
مُعرف محوري في PubMed: PMC10767975
DOI: 10.1093/nar/gkad1005
PMID: 37953324
قاعدة البيانات: MEDLINE
الوصف
تدمد:1362-4962
DOI:10.1093/nar/gkad1005