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Article

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

Orphanet journal of rare diseases - 15 Jun 2026

Madenidou Anastasia-Vasiliki, Rice Gillian I, Dyball Sarah, Parker Ben, Herrick Ariane L, Chinoy Hector, Stevens Adam, Bruce Ian N, Briggs Tracy A

Abstract excerpt

BACKGROUND: The Human Phenotype Ontology (HPO) provides a standardised framework for disease-phenotype associations. Given the complexity of systemic autoimmune rheumatic diseases (SARDs) and the absence of prior evaluations, we aimed to assess the completeness of HPO terms capturing SARD-related phenotypic features and SARD-phenotype associations. METHODS: Whole-exome sequencing was performed in 111 individuals...

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Identifiers

PMID: 42298649
DOI: 10.1186/s13023-026-04432-0
PMCID: PMC13495302

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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