ArticleNucleic acids research2021
The Human Phenotype Ontology in 2021.
Article in Nucleic acids research, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 695 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
695 citing papers in PubMed, 2 syntheses or guidelines pooled it, 1,208 citations in OpenAlex.
- Meta-analysis of genome-wide associations and polygenic risk prediction for atrial fibrillation in more than 180,000 cases.Nature genetics · 2025Pooled it
- Fetal genetic factors in pregnancy loss: Insights from a meta-analysis and effectiveness of whole exome sequencing.PloS one · 2025Pooled it
- Current translational perspectives for diagnosis and individualized therapy in rare genetic diseases.Communications medicine · 2026Review
- Reanalysis of genomic data doubles the diagnostic yield for Welsh patients recruited to the UK 100,000 Genomes Project.European journal of human genetics : EJHG · 2026Article
- Review
- Spectrum of Hereditary Neuropathies in Adult Patients From Serbia.Journal of the peripheral nervous system : JPNS · 2026Article
- AI-based multimodal integration of genomics and electronic health records.Nature reviews. Genetics · 2026Review
- RESCUE: An end-to-end multi-agent LLM system for proactive rare-disease patient screening in the EHR.medRxiv : the preprint server for health sciences · 2026Article
- Benchmarking the impact of data leakage on the performance of knowledge graph embedding models for biomedical link prediction.Bioinformatics (Oxford, England) · 2026Article
- Leveraging Next-Generation Phenotyping in Dysmorphology to Support Variant Interpretation in Mowat-Wilson Syndrome.Neurology. Genetics · 2026Article
- Initial-Visit Specialty Triage in Rare Diseases Using Large Language Models: Retrospective Benchmarking Study.Journal of medical Internet research · 2026Article
- Dissecting the expression pattern during embryonic development and unveiling sustained ZGA genes with oncogenic relevance.BMC genomics · 2026Article
- Genome sequencing for the diagnosis of rare disorders: The Brazilian Rare Genomes Project.HGG advances · 2026Article
- Exome sequencing early in outpatient evaluation in NCGENES 2: Changing the course of the diagnostic odyssey?HGG advances · 2026Article
- Pervasive relaxed selection on spermatogenesis genes coincident with the evolution of polygyny in gorillas.eLife · 2026Article
- Global stabilization of the mitochondrial proteome is associated with extreme anoxia tolerance in Austrofundulus limnaeus WS40NE cells.BMC biology · 2026Article
- An EHR-based framework for modeling growth curves and constructing growth centile charts for genetic disorders.NPJ genomic medicine · 2026Article
- Exploring cell-type associations of rare disease phenotypes using non-diseased cell atlases.Briefings in bioinformatics · 2026Article
- Article
- Unsupervised characterization of 100,272 EHR patients identifies high-risk groups and comorbidities linked to premature aging.NPJ digital medicine · 2026Article
635 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
51 authors at 20 institutions in 10 countries.
Funding
Abstract
The Human Phenotype Ontology (HPO, https://hpo.jax.org) was launched in 2008 to provide a comprehensive logical standard to describe and computationally analyze phenotypic abnormalities found in human disease. The HPO is now a worldwide standard for phenotype exchange. The HPO has grown steadily since its inception due to considerable contributions from clinical experts and researchers from a diverse range of disciplines. Here, we present recent major extensions of the HPO for neurology, nephrology, immunology, pulmonology, newborn screening, and other areas. For example, the seizure subontology now reflects the International League Against Epilepsy (ILAE) guidelines and these enhancements have already shown clinical validity. We present new efforts to harmonize computational definitions of phenotypic abnormalities across the HPO and multiple phenotype ontologies used for animal models of disease. These efforts will benefit software such as Exomiser by improving the accuracy and scope of cross-species phenotype matching. The computational modeling strategy used by the HPO to define disease entities and phenotypic features and distinguish between them is explained in detail.We also report on recent efforts to translate the HPO into indigenous languages. Finally, we summarize recent advances in the use of HPO in electronic health record systems.
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.