Article
Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity.
The Journal of allergy and clinical immunology - 1 Jan 2022
Haimel Matthias, Pazmandi Julia, Heredia Raúl Jiménez, Dmytrus Jasmin, Bal Sevgi Köstel, Zoghi Samaneh, van Daele Paul, Briggs Tracy A, Wouters Carine, Bader-Meunier Brigitte, Aeschlimann Florence A, Caorsi Roberta, Eleftheriou Despina, Hoppenreijs Esther, Salzer Elisabeth, Bakhtiar Shahrzad, Derfalvi Beata, Saettini Francesco, Kusters Maaike A A, Elfeky Reem, Trück Johannes, Rivière Jacques G, van der Burg Mirjam, Gattorno Marco, Seidel Markus G, Burns Siobhan, Warnatz Klaus, Hauck Fabian, Brogan Paul, Gilmour Kimberly C, Schuetz Catharina, Simon Anna, Bock Christoph, Hambleton Sophie, de Vries Esther, Robinson Peter N, van Gijn Marielle, Boztug Kaan
Abstract excerpt
BACKGROUND: 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. However, to date, the use of HPO has not yet been...
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