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Paper Details

Curation and expansion of the Human Phenotype Ontology for systemic autoinflammatory diseases improves phenotype-driven disease-matching.
Front Immunol
1
2023
HPO, HPO terms, Human, SAID, SAIDs, autoinflammatory disease, inborn errors of immunity, patient, patients, rare diseases, systemic autoinflammatory diseases
Author NameAffiliation
Morris A SwertzUniversity Medical Centre Groningen, University of Groningen
Morris A SwertzUniversity Medical Centre Groningen, University of Groningen
Marielle E van GijnUniversity Medical Centre Groningen, University of Groningen
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Datasets

Dataset
Description
Source Link
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
Release 1.2