Article

Standardised Human Phenotype Ontology Annotation Enables High Quality Phenotypic Data Capture in a Real-World Common Variable Immunodeficiency Cohort

2026-04-29

Abstract excerpt

<h4>Background</h4> Patients with Common Variable Immunodeficiency (CVID) exhibit diverse clinical manifestations, indicating heterogeneity in pathogenic mechanisms. Systematic application of standardised phenotyping in large cohorts is essential to dissect this heterogeneity. The Human Phenotype Ontology (HPO) provides a structured framework for capturing and comparing disease phenotypes. <h4>Objective</h4> To...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 5f109edc-37e2-5dc0-ab3b-35132ac20ba1
DOI: 10.64898/2026.04.29.26350963

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Standardised Human Phenotype Ontology Annotation Enables High Quality Phenotypic Data Capture in a Real-World Common Variable Immunodeficiency CohortDOI 10.64898/2026.04.29.26350963Read

Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity.Semantic proximity Read

PIDO: the primary immunodeficiency disease ontology.Semantic proximity Read

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

Electronic health record signatures identify undiagnosed patients with Common Variable Immunodeficiency DiseaseSemantic proximity Read

Unveiling the Genetic and Epidemiological Patterns of Primary Immunodeficiency Diseases (PIDs) in a Cohort of Eastern Iranian PatientsSemantic proximity Read

Electronic health record signatures identify undiagnosed patients with common variable immunodeficiency disease.Semantic proximity Read

Genetic and epidemiological patterns of primary immunodeficiency diseases in Eastern Iranian patients.Semantic proximity Read

Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics.Semantic proximity Read

Monogenic Common Variable Immunodeficiency (Mo-CVID) Score for optimizing the diagnostic metamorphosis in pediatric CVID cohortSemantic proximity Read

Refining Human Phenotype Ontology (HPO) to enable better phenotype-genotype integration in systemic autoimmune rheumatic diseases.Semantic proximity Read

The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease.Semantic proximity Read

The Human Phenotype Ontology in 2017.Semantic proximity Read