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Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity / Haimel, Matthias (CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences (Vienna)) ; Pazmandi, Julia (CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences (Vienna)) ; Heredia, Raú Jiménez (CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences (Vienna)) ; Dmytrus, Jasmin (CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences (Vienna)) ; Bal, Sevgi Köstel (CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences (Vienna)) ; Zoghi, Samaneh (CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences (Vienna)) ; van Daele, Paul (Erasmus University Medical Center (Rotterdam)) ; Briggs, Tracy A. (University of Manchester) ; Wouters, Carine (University Hospitals Leuven (Bèlgica)) ; Bader-Meunier, Brigitte (Reference Center for Rheumatic, Autoimmune and Systemic Diseases in Children (RAISE) (Paris)) ; Aeschlimann, Florence A. (Reference Center for Rheumatic, Autoimmune and Systemic Diseases in Children (RAISE),(Paris)) ; Caorsi, Roberta (IRCCS Istituto Giannina Gaslini, Genova) ; Eleftheriou, Despina (Hospital for Children NHS Foundation Trust (London)) ; Hoppenreijs, Esther (Radboud University Medical Centre (Nijmegen)) ; Salzer, Elisabeth (Medical University of Vienna) ; Bakhtiar, Shahrzad (Goethe University) ; Derfalvi, Beata (Dalhousie University/IWK Health Centre Halifax) ; Saettini, Francesco (University of Milano Bicocca) ; Kusters, Maaike A. A. (Hospital for Children NHS Foundation Trust) ; Elfeky, Reem (Hospital for Children NHS Foundation Trust (London)) ; Trück, Johannes (University Children's Hospital Zurich) ; Rivière, Jacques G.. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; van der Burg, Mirjam (Leiden University Medical Center) ; Gattorno, Marco (IRCCS Istituto Giannina Gaslini (Genova)) ; Seidel, Markus G. (Medical University Graz) ; Burns, Siobhan (Royal Free Hospital NHS Foundation Trust) ; Warnatz, Klaus (University of Freiburg) ; Hauck, Fabian (Ludwig-Maximilians-Universität München (Munich)) ; Brogan, Paul (Hospital for Children NHS Foundation Trust (London)) ; Gilmour, Kimberly C. (Hospital for Children NHS Foundation Trust (London)) ; Schuetz, Catharina (Technische Universität Dresden) ; Simon, Anna (Radboud University Nijmegen Medical Centre) ; Bock, Christoph (Medical University of Vienna) ; Hambleton, Sophie (Newcastle University) ; de Vries, Esther (Elisabeth-Tweesteden Hospital (Tilburg)) ; Robinson, Peter N. (The Jackson Laboratory for Genomic Medicine (Farmington)) ; van Gijn, Marielle (University Medical Center Groningen) ; Boztug, Kaan (Medical University of Vienna) ; Universitat Autònoma de Barcelona
Accurate, detailed, and standardized phenotypic descriptions are essential to support diagnostic interpretation of genetic variants and to discover new diseases. The Human Phenotype Ontology (HPO), extensively used in rare disease research, provides a rich collection of vocabulary with standardized phenotypic descriptions in a hierarchical structure. [...]
2021 - DOI (Digital Object Identifier)

10.1016/j.jaci.2021.04.033
The Journal of Allergy and Clinical Immunology, Vol. 149 (may 2021) , p. 369-378

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