ArticleNucleic acids research2019
Human Disease Ontology 2018 update: classification, content and workflow expansion.
Article in Nucleic acids research, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 247 papers, 3 of them syntheses that pooled it.
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Who cites it
247 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- A meta-analysis of epitopes in prostate-specific antigens identifies opportunities and knowledge gaps.Human immunology · 2023Pooled it
- European and multi-ancestry genome-wide association meta-analysis of atopic dermatitis highlights importance of systemic immune regulation.Nature communications · 2023Pooled it
- Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity.The Journal of allergy and clinical immunology · 2022Pooled it
- Reporting and representation of population descriptors in public RNA-seq databases.Cell genomics · 2026Article
- DSGCNLDA: A Multi-view Learning Model with DualScope Attention for lncRNA-Disease Association Prediction.Interdisciplinary sciences, computational life sciences · 2026Article
- Transcriptome signatures for the identification of bevacizumab responders in ovarian cancer.Genome medicine · 2026Article
- Variant characterization in the intrinsically disordered human proteome.Nature structural & molecular biology · 2026Article
- VITAGRAPH: building a knowledge graph for biologically relevant learning tasks.Scientific data · 2026Article
- Embeddings of clinical codes enable knowledge-grounded AI in medicine.NPJ digital medicine · 2026Article
- The Common Fund Data Ecosystem (CFDE).bioRxiv : the preprint server for biology · 2026Article
- OncoRisk: a state-of-the-art web server for bridging the oncogenic databases and pan-cancer cohorts to the translational oncology.Communications biology · 2026Article
- Advancing the bioassay ontology through integrated PK/PD and safety pharmacology representation.Journal of biomedical semantics · 2026Article
- Spatial cartography of human thymus enables the geopositioning of lineage transcription factors in rare mimetic thymic epithelial cells.Nature communications · 2026Article
- Machine-actionable criteria chart the symptom space of mental disorders.NPJ digital medicine · 2026Article
- Cell-Free DNA-Based Theranostics for Inflammatory Disorders.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Review
- Article
- CCCdb: a comprehensive manually curated database for cell-cell communication in human and mouse.Nucleic acids research · 2026Article
- SeekPCMdb: knowledge on disease-associated protein-coding mutations.Nucleic acids research · 2026Article
- Residual allelic activity likely underlies the low rates of disease expression for predicted loss-of-function variants in population-scale biobanks.American journal of human genetics · 2025Article
- Predicting Potential Microbe-Disease Associations Based on Heterogeneous Graph Random Attention Neural Network and Neural Collaborative Filtering.Interdisciplinary sciences, computational life sciences · 2025Article
187 more citing papers are in PubMed but not listed here.
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20 authors.
Funding
Abstract
The Human Disease Ontology (DO) (http://www.disease-ontology.org), database has undergone significant expansion in the past three years. The DO disease classification includes specific formal semantic rules to express meaningful disease models and has expanded from a single asserted classification to include multiple-inferred mechanistic disease classifications, thus providing novel perspectives on related diseases. Expansion of disease terms, alternative anatomy, cell type and genetic disease classifications and workflow automation highlight the updates for the DO since 2015. The enhanced breadth and depth of the DO's knowledgebase has expanded the DO's utility for exploring the multi-etiology of human disease, thus improving the capture and communication of health-related data across biomedical databases, bioinformatics tools, genomic and cancer resources and demonstrated by a 6.6× growth in DO's user community since 2015. The DO's continual integration of human disease knowledge, evidenced by the more than 200 SVN/GitHub releases/revisions, since previously reported in our DO 2015 NAR paper, includes the addition of 2650 new disease terms, a 30% increase of textual definitions, and an expanding suite of disease classification hierarchies constructed through defined logical axioms.
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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.