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Paper Details

Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity.
J Allergy Clin Immunol
14
2022
HPO, Human, IEI, IEIs, genetic variants, inborn errors of immunity, rare disease
Author NameAffiliation
Matthias HaimelLudwig Boltzmann Institute for Rare and Undiagnosed Diseases, Austria St Anna Children's Cancer Research Institute (CCRI), Austria CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences
Julia PazmandiLudwig Boltzmann Institute for Rare and Undiagnosed Diseases, Austria St Anna Children's Cancer Research Institute (CCRI), Austria CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences
Maaike A KustersUniversity College London Great Ormond Street Institute of Child Health, Great Ormond Street (GOS) Hospital for Children NHS Foundation Trust
Reem ElfekyUniversity College London Great Ormond Street Institute of Child Health, Great Ormond Street (GOS) Hospital for Children NHS Foundation Trust
Markus G SeidelResearch Unit for Pediatric Hematology and Immunology, Medical University Graz
Fabian HauckDr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universitat Munchen
Kimberly GilmourGreat Ormond Street (GOS) Hospital for Children NHS Foundation Trust
Catharina SchuetzTechnische Universitat Dresden
Christoph BockLudwig Boltzmann Institute for Rare and Undiagnosed Diseases, Austria CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Austria Institute of Artificial Intelligence and Decision Support, Center for Medical Statistics, Medical University of Vienna
Christoph BockLudwig Boltzmann Institute for Rare and Undiagnosed Diseases, Austria CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Austria Institute of Artificial Intelligence and Decision Support, Center for Medical Statistics, Medical University of Vienna
Peter N Robinson
Peter N Robinson
Marielle E van GijnUniversity Medical Center Groningen
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Datasets

Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink