Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity
Matthias Haimel, Júlia Pázmándi, Raúl Jiménez Heredia, Jasmin Dmytrus, Sevgi Köstel Bal, Samaneh Zoghi, Paul Van Daele, Tracy A. Briggs, Carine Wouters, Brigitte Bader‐Meunier, Florence A. Aeschlimann, Roberta Caorsi, Despina Eleftheriou, Esther Hoppenreijs, Elisabeth Salzer, Shahrzad Bakhtiar, Beáta Dérfalvi, Francesco Saettini, Maaike Kusters, Reem Elfeky, Johannes Trück, Jacques G. Rivière, Mirjam van der Burg, Marco Gattorno, Markus G. Seidel, Siobhan O. Burns, Klaus Warnatz, Fabian Hauck, Paul Brogan, Kimberly Gilmour, Catharina Schuetz, Anna Simon, Christoph Bock, Sophie Hambleton, Esther de Vries, Peter N. Robinson, Mariëlle van Gijn, Kaan Boztuǧ
Topics & Concepts
OntologyPhenotypeComputer scienceVocabularyComputational biologyDiseaseArtificial intelligenceBiologyMedicineGeneticsPathologyGeneLinguisticsEpistemologyPhilosophyImmunodeficiency and Autoimmune DisordersGenomics and Rare DiseasesBiomedical Text Mining and Ontologies