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Curation and expansion of the Human Phenotype Ontology for systemic autoinflammatory diseases improves phenotype-driven disease-matching

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 fo...

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Detalles Bibliográficos
Autores principales:	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
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2023
Materias:	Immunology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10536149/ https://www.ncbi.nlm.nih.gov/pubmed/37781402 http://dx.doi.org/10.3389/fimmu.2023.1215869

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