Article
Curation and expansion of the Human Phenotype Ontology for systemic autoinflammatory diseases improves phenotype-driven disease-matching.
Frontiers in immunology - 1 Jan 2023
Maassen Willem, Legger Geertje, Kul Cinar Ovgu, van Daele Paul, Gattorno Marco, Bader-Meunier Brigitte, Wouters Carine, Briggs Tracy, Johansson Lennart, van der Velde Joeri, Swertz Morris, Omoyinmi Ebun, Hoppenreijs Esther, Belot Alexandre, Eleftheriou Despina, Caorsi Roberta, Aeschlimann Florence, Boursier Guilaine, Brogan Paul, Haimel Matthias, van Gijn Marielle
Abstract excerpt
Introduction: Accurate and standardized phenotypic descriptions are essential in diagnosing rare diseases and discovering new diseases, and the Human Phenotype Ontology (HPO) system was developed to provide a rich collection of hierarchical phenotypic descriptions. However, although the HPO terms for inborn errors of immunity have been improved and curated, it has not been investigated whether this curation...
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