Curation and Expansion of Human Phenotype Ontology for Inborn Errors of Immunity
Julia Pazmandi,Matthias Haimel,Daniel Mayr,Jakob Berner,Raul Jimenez Heredia,Jasmin Dmytrus,Sevgi Bal,Samaneh Zoghi,Paul Van Daele,Tracy Briggs,Carine Wouters,Brigitte Bader-Meunier, Florence Aeschlimann,Roberta Caorsi,Despina Eleftheriou,Esther Hoppenreijs,Elisabeth Salzer, Shahrzad Bakhtiar,Beata Derfalvi,Francesco Saettini,Maaike A. Kusters,Reem Elfeky, Johannes Trueck,Jacques Riviere,Mirjam van der Burg,Marco Gattorno,Markus Seidel,Siobhan Burns,Klaus Warnatz,Fabian Hauck,Paul Brogan,Sophie Hambleton, Kimberly Gilmour,Catharina Schuetz,Anna Simon,Christoph Bock,Esther de Vries,Peter Robinson, Marielle Van Gijn,Kaan Boztug JOURNAL OF CLINICAL IMMUNOLOGY(2022)
关键词
Human Phenotype Ontology, Inborn errors of Immunity, Autoinflammation, Autoimmunity, Immune dysregulation
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