ArticleNucleic acids research2022
The Human Disease Ontology 2022 update.
Article in Nucleic acids research, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 179 papers, 3 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
179 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- Computational prediction of RNA modification site-disease associations: a systematic review.Briefings in bioinformatics · 2026Pooled it
- A meta-analysis of experimentally validated neo-epitopes: patterns, biases, and opportunities.Cancer immunology, immunotherapy : CII · 2025Pooled it
- A meta-analysis of epitopes in prostate-specific antigens identifies opportunities and knowledge gaps.Human immunology · 2023Pooled it
- CDELDA: A Content-Based Dual-Encoder for Cold-Start lncRNA-Disease Association Prediction.Biomedicines · 2026Article
- A text mining and ontology-based approach using phenotypes to obtain relevant literature for rare diseases.iScience · 2026Article
- Construction of a prediction model for retinopathy of prematurity based on placenta-derived genes and clinical variables.Translational pediatrics · 2026Article
- Genetic-Proteomic Integration Identifies Predictive Plasma Proteins for Multiple Sclerosis.Annals of neurology · 2026Article
- VITAGRAPH: building a knowledge graph for biologically relevant learning tasks.Scientific data · 2026Article
- A NIR fluorotag reporter CETIF6a enables bright pan-tumor labeling and functional proteomic profiling.Nature communications · 2026Article
- Decoding chromatin regulator-LAIR1Clinical and experimental medicine · 2026Article
- FAIR in practice: minimum metadata schema for bioinformatics analytics by machines.Journal of biomedical semantics · 2026Article
- mInterdisciplinary sciences, computational life sciences · 2026Article
- Blood-based proteomic signature of amyloidosis: identification of novel regulators of amyloid load.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026Article
- Beyond Identifier Matching: An Empirical Characterization of Failure Modes in Biomedical Knowledge Graph Integration.medRxiv : the preprint server for health sciences · 2026Article
- Contrasting the genetic architecture of cardiac glutathione against other organs: unveiling a unique tissue-specific locus.Mammalian genome : official journal of the International Mammalian Genome Society · 2026Article
- VO: The Vaccine Ontology.Scientific data · 2026Article
- Identification of Potential Bioactive Compounds in Strong-Flavor-Type Baijiu via Integration of Widely Targeted Metabolomics and Network Pharmacology.Foods (Basel, Switzerland) · 2026Article
- Representing dental caries and dysbiosis within the oral microbiome in the Oral Health and Disease Ontology.Journal of biomedical semantics · 2026Article
- AI-powered TargetMap: Enabling system-level target discovery through full-path reasoning on a unified knowledge graph.iScience · 2026Article
- Mondo: integrating disease terminology across communities.Genetics · 2026Article
119 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
15 authors.
Funding
Abstract
The Human Disease Ontology (DO) (www.disease-ontology.org) database, has significantly expanded the disease content and enhanced our userbase and website since the DO's 2018 Nucleic Acids Research DATABASE issue paper. Conservatively, based on available resource statistics, terms from the DO have been annotated to over 1.5 million biomedical data elements and citations, a 10× increase in the past 5 years. The DO, funded as a NHGRI Genomic Resource, plays a key role in disease knowledge organization, representation, and standardization, serving as a reference framework for multiscale biomedical data integration and analysis across thousands of clinical, biomedical and computational research projects and genomic resources around the world. This update reports on the addition of 1,793 new disease terms, a 14% increase of textual definitions and the integration of 22 137 new SubClassOf axioms defining disease to disease connections representing the DO's complex disease classification. The DO's updated website provides multifaceted etiology searching, enhanced documentation and educational resources.
Indexed as
Identifiers
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.