Use Cases
The Human Disease Ontology (DO) is utilized extensively in biomedical and bioinformatics applications:
- By scientists conducting primary and applied research,
- In databases and programmatic tools designed to support a wide variety of research and clinical decision-making,
- In the development of other ontologies and knowledge representation resources, and
- By for profit companies.
Use Cases
| Name | Category |
|---|---|
| AAgAtlas: Human AutoAntigen Db | Databases / resources / portals / atlases |
| ABCkb | Databases / resources / portals / atlases |
| ADEPTUS | Clinical / translational / patient-focused |
| ANDES | Pathways / systems biology / enrichment |
| ARAX | Clinical / translational / patient-focused |
| ASDmiR | Clinical / translational / patient-focused |
| ATD: Autophagy To Disease | Databases / resources / portals / atlases |
| African Human Microbiome Portal | Databases / resources / portals / atlases |
| AllEnricher | AI/ML / predictive modeling |
| AllerGAtlas | Databases / resources / portals / atlases |
| Alliance of Genome Resources | Multi-omics / genomics / transcriptomics |
| Allotrope Foundation Ont (AFO) | Ontology / semantics / knowledge representation |
| AlzKB: Alzheimer’s KB | Databases / resources / portals / atlases |
| Alzheimer Gene Assoc Classifier | Databases / resources / portals / atlases |
| Annot | Databases / resources / portals / atlases |
| Antibiotic Resistance Ont (ARO) | Ontology / semantics / knowledge representation |
| Apollo Structured Vocabulary | Ontology / semantics / knowledge representation |
| Arena-Idb | Databases / resources / portals / atlases |
| Argo | Clinical / translational / patient-focused |
| AuDis | Clinical / translational / patient-focused |
| AutismKB | Databases / resources / portals / atlases |
| BALDR | Biomarkers / diagnosis / prognosis |
| BEAVR | Databases / resources / portals / atlases |
| BIONDA | Databases / resources / portals / atlases |
| BLAT2DOLite | Databases / resources / portals / atlases |
| BO-LSTM | Databases / resources / portals / atlases |
| BPLLDA | Clinical / translational / patient-focused |
| BRD: Biosurveillance Resource Dir | Databases / resources / portals / atlases |
| BRWLDA | Clinical / translational / patient-focused |
| Bio-SimLex | Databases / resources / portals / atlases |
| Bio-SimVerb | Databases / resources / portals / atlases |
| Bio2RDF | Ontology / semantics / knowledge representation, Knowledge graphs / networks |
| BioASQ | Ontology / semantics / knowledge representation |
| BioASQ-QA | NLP / text mining / literature mining |
| BioAssay Ontology (BAO) | Ontology / semantics / knowledge representation |
| BioCreative V | Visualization / user interface |
| BioDataome | Databases / resources / portals / atlases |
| BioGrid | Databases / resources / portals / atlases |
| BioMedGraphica | Knowledge graphs / networks |
| BioMuta | Cancer / oncology |
| BioNELL | Databases / resources / portals / atlases |
| BioPortal | Databases / resources / portals / atlases |
| BioTAGME | Knowledge graphs / networks |
| BioThings API ecosystem | Databases / resources / portals / atlases |
| BioWES | Databases / resources / portals / atlases |
| BioXpress | Cancer / oncology |
| BiomarkerKB | Databases / resources / portals / atlases |
| Biomodels | Databases / resources / portals / atlases |
| BrainBase | Databases / resources / portals / atlases |
| Breast Cancer Fuzzy Ont (BCFO) | Cancer / oncology |
| CBGDA | Databases / resources / portals / atlases |
| CCAS | Cancer / oncology |
| CCCdb | Databases / resources / portals / atlases |
| CD-CODE | Databases / resources / portals / atlases |
| CDA-SKAG | AI/ML / predictive modeling |
| CEDAR | Databases / resources / portals / atlases |
| CEDAR OnDemand | Databases / resources / portals / atlases |
| CFDE: Common Fund Data Ecosystem | Databases / resources / portals / atlases |
| CHEAR Ontology | Databases / resources / portals / atlases |
| CIViC | Cancer / oncology, Databases / resources / portals / atlases, Clinical / translational / patient-focused |
| CIViCMine | NLP / text mining / literature mining, Cancer / oncology, Biomarkers / diagnosis / prognosis |
| COEXPEDIA | Clinical / translational / patient-focused |
| COGR: Canadian Open Genet Repo | Databases / resources / portals / atlases |
| COSMONET | Biomarkers / diagnosis / prognosis |
| COVID-19Base | Databases / resources / portals / atlases |
| CRESTA | Databases / resources / portals / atlases |
| CSGene: Cell Senesc Gene Db | Databases / resources / portals / atlases |
| CSgator: Compound Set Navigator | Drug discovery / therapeutics / pharmacology |
| CTD2: Cancer Target Discov & Dev | Cancer / oncology |
| CTD: Compar Toxicogenomic Db | Databases / resources / portals / atlases |
| CTR-DB | Clinical / translational / patient-focused |
| CVSARRP | Databases / resources / portals / atlases |
| Cancer Genome Interpreter | Cancer / oncology |
| CancerMIRNome | Databases / resources / portals / atlases |
| Cardiovasc Dis Ontology (CVDO) | Clinical / translational / patient-focused |
| Cell Culture Ontology (CCONT) | Ontology / semantics / knowledge representation |
| Cell Line Ontology (CLO) | Ontology / semantics / knowledge representation |
| Cell Marker Accordion | Clinical / translational / patient-focused |
| Cell Taxonomy | Databases / resources / portals / atlases |
| CellResDB | Clinical / translational / patient-focused |
| ChIPseeker | Ontology / semantics / knowledge representation |
| ChemDIS | Clinical / translational / patient-focused, Databases / resources / portals / atlases |
| ChemFOnt | Databases / resources / portals / atlases |
| Circ2Disease | Databases / resources / portals / atlases |
| CircR2Cancer | Databases / resources / portals / atlases |
| ClinGen | Clinical / translational / patient-focused, Variant / mutation / genetic disease, Databases / resources / portals / atlases |
| CoMentG | Databases / resources / portals / atlases |
| CoNVaQ | Databases / resources / portals / atlases |
| Cognitive DDx Asst in Rare Dis | Databases / resources / portals / atlases |
| Coronavirus Infect Dis Ont (CIDO) | Clinical / translational / patient-focused |
| CryptoGene DB | Databases / resources / portals / atlases |
| D2H2 | Databases / resources / portals / atlases |
| DAISY: Data Information System | Databases / resources / portals / atlases |
| DDCM: Disease-Drug Corr Method | Drug discovery / therapeutics / pharmacology |
| DDKG: Data Distillery KG | Knowledge graphs / networks |
| DEEPScreen | AI/ML / predictive modeling |
| DES-Amyloidosis | Databases / resources / portals / atlases |
| DES-Mutation | Variant / mutation / genetic disease |
| DES-ROD: RNA Oxid & Dis | Databases / resources / portals / atlases |
| DES-Tcell | Databases / resources / portals / atlases |
| DEXTER | Clinical / translational / patient-focused |
| DGA: Disease and Gene Annot | Databases / resources / portals / atlases |
| DHOSGR | Clinical / translational / patient-focused |
| DISEASES | Databases / resources / portals / atlases |
| DISNET | Clinical / translational / patient-focused |
| DISNOR | Databases / resources / portals / atlases |
| DLMPM | Clinical / translational / patient-focused |
| DODO: Dict of Dis Ontologies | Databases / resources / portals / atlases |
| DOSE: DO Semant Enrich analysis | Clinical / translational / patient-focused |
| DOSim | Clinical / translational / patient-focused |
| DanioNet | Knowledge graphs / networks |
| Darling | Clinical / translational / patient-focused |
| Data Use Ontology (DUO) | Ontology / semantics / knowledge representation |
| DcGO | Databases / resources / portals / atlases |
| DeCoaD | Databases / resources / portals / atlases |
| DeepGO | AI/ML / predictive modeling |
| DeepciRGO | AI/ML / predictive modeling |
| Dermatological Dis Ont (DermO) | Ontology / semantics / knowledge representation |
| DiSignAtlas | Databases / resources / portals / atlases |
| Diabetes Mellit Treat Ont (DMTO) | Ontology / semantics / knowledge representation |
| Digital Phenotype Explorer | Clinical / translational / patient-focused |
| DincRNA | Clinical / translational / patient-focused |
| DisGeNET | Databases / resources / portals / atlases, Clinical / translational / patient-focused |
| DisPhaseDB | Databases / resources / portals / atlases |
| DisSetSim | Clinical / translational / patient-focused |
| DisSim | Drug discovery / therapeutics / pharmacology |
| Disease Maps | Pathways / systems biology / enrichment, Visualization / user interface |
| Diseasomics knowledge system | Clinical / translational / patient-focused |
| DoCM: Db of Curated Mutations | Databases / resources / portals / atlases |
| OCDB: OCD Database | Databases / resources / portals / atlases |
| OMIM | Clinical / translational / patient-focused |
| ORPheUS | Ontology / semantics / knowledge representation, Clinical / translational / patient-focused |
| OVA: Onto Variant Analysis Tool | Clinical / translational / patient-focused |
| Obstet and Neonatal Ont (OntONeo) | Clinical / translational / patient-focused |
| Olink Proteomics Services | Multi-omics / genomics / transcriptomics |
| OnASSIs | Ontology / semantics / knowledge representation |
| OnTheFly2.0 | Ontology / semantics / knowledge representation |
| OncoKB | Databases / resources / portals / atlases |
| OncoMX | Databases / resources / portals / atlases |
| OncoPDSS | Clinical / translational / patient-focused |
| Oncodomains | Cancer / oncology |
| OneStopRNAseq | Multi-omics / genomics / transcriptomics |
| Ont Host-Microbiom Interact (OHMI) | Ontology / semantics / knowledge representation |
| Ont of Drug Adverse Events (ODAE) | Ontology / semantics / knowledge representation |
| Ont of Host Pathogen Inter (OHPI) | Ontology / semantics / knowledge representation |
| Ont of Precis Med & Investig (OPMI) | Ontology / semantics / knowledge representation |
| OntoCAT | Ontology / semantics / knowledge representation |
| OntoGene | NLP / text mining / literature mining, Ontology / semantics / knowledge representation |
| OntoTiger | Ontology / semantics / knowledge representation |
| Ontoclick | Databases / resources / portals / atlases |
| Ontology Extension | Ontology / semantics / knowledge representation |
| Ontology for Biobanking (OBIB) | Ontology / semantics / knowledge representation |
| Ontology for Biomed Investig (OBI) | Ontology / semantics / knowledge representation |
| Ontology for Gen Med Sci (OGMS) | Ontology / semantics / knowledge representation |
| Ontology for MIRNA Target (OMIT) | Ontology / semantics / knowledge representation |
| Ontology of Adverse Events (OAE) | Ontology / semantics / knowledge representation |
| OpenXGR | Multi-omics / genomics / transcriptomics |
| PATRIC | Databases / resources / portals / atlases |
| PDX-MI | Clinical / translational / patient-focused, Ontology / semantics / knowledge representation |
| PICMOA | Databases / resources / portals / atlases |
| PK-DB: Pharmacokinetics Db | Databases / resources / portals / atlases |
| PLSDB: Plasmid Db | Databases / resources / portals / atlases |
| POEAS | Ontology / semantics / knowledge representation |
| PORI | Databases / resources / portals / atlases |
| PPDAMEGCN | Clinical / translational / patient-focused |
| PRISM | Clinical / translational / patient-focused |
| PSINDB: Postsynaptic Inter Db | Databases / resources / portals / atlases |
| PUTransGCN | Clinical / translational / patient-focused |
| Pan-ReDU | Databases / resources / portals / atlases |
| PanGIA | Databases / resources / portals / atlases |
| Pancreatlas | Clinical / translational / patient-focused |
| PathoPhenoDB | Clinical / translational / patient-focused |
| PedAM | Databases / resources / portals / atlases |
| Pedican: Pediatric cancer gene Db | Databases / resources / portals / atlases |
| Petagraph | Knowledge graphs / networks |
| PhaSeDis | Databases / resources / portals / atlases |
| PharMeBINet | Clinical / translational / patient-focused |
| Pharmacorank | Drug discovery / therapeutics / pharmacology |
| Pharos | Databases / resources / portals / atlases |
| Phen2Gene | Clinical / translational / patient-focused |
| PhenCards | Databases / resources / portals / atlases |
| PhenoMiner | Databases / resources / portals / atlases |
| PhenoQC | Multi-omics / genomics / transcriptomics |
| Phenolyzer | Clinical / translational / patient-focused |
| Phenomebrowser | Databases / resources / portals / atlases, Knowledge graphs / networks |
| Phevor2 | Variant / mutation / genetic disease, Ontology / semantics / knowledge representation |
| PlasmiR | Clinical / translational / patient-focused |
| PlateletBase | Databases / resources / portals / atlases |
| Populous | Databases / resources / portals / atlases |
| PosMed: Positional MEDLINE | Ontology / semantics / knowledge representation |
| Pre-Eclampsia Ontology (PE-O) | Clinical / translational / patient-focused |
| PreOptique | Databases / resources / portals / atlases |
| Protein Ontology (PRO) | Ontology / semantics / knowledge representation |
| Public Health Doc Ont (OntoPH) | Ontology / semantics / knowledge representation |
| Quant Histopath Image Ont (QHIO) | Clinical / translational / patient-focused |
| Quant Imag Biomarker Ont (QIBO) | Ontology / semantics / knowledge representation |
| QueryOR | Variant / mutation / genetic disease |
| Quest Diagnostics | Clinical / translational / patient-focused |
| R-loopBase | Databases / resources / portals / atlases |
| REGene | Databases / resources / portals / atlases |
| RGCNCDA | Clinical / translational / patient-focused |
| RGD: Rat Genome Db | Databases / resources / portals / atlases |
| RIKEN Bioresource MetaDatabase | Databases / resources / portals / atlases |
| RIscoper | AI/ML / predictive modeling |
| RMDGCN | Clinical / translational / patient-focused |
| RNA2Immune | Databases / resources / portals / atlases |
| RNADisease | Databases / resources / portals / atlases |
| ROBOT | Ontology / semantics / knowledge representation |
| RUGGED | Knowledge graphs / networks, AI/ML / predictive modeling |
| RWDisEnh+ | Knowledge graphs / networks, AI/ML / predictive modeling |
| RaCE: Rare Cancer Explorer | Databases / resources / portals / atlases |
| Radiology Gamuts Ontology (RGO) | Ontology / semantics / knowledge representation |
| RareDis | NLP / text mining / literature mining |
| Reactome | Databases / resources / portals / atlases |
| ResMarkerDB | Databases / resources / portals / atlases |
| ResMicroDb | Databases / resources / portals / atlases |
| RetroInspector | Multi-omics / genomics / transcriptomics |
| SEA CDM | AI/ML / predictive modeling |
| SGD: Saccharomyces Genome Db | Databases / resources / portals / atlases |
| SPOKE | Knowledge graphs / networks |
| SVMDO | Clinical / translational / patient-focused |
| SeekPCMdb | Clinical / translational / patient-focused |
| Sickle Cell Disease Ont (SCDO) | Ontology / semantics / knowledge representation |
| SmallBARNA | Databases / resources / portals / atlases |
| SugarbindDB | Databases / resources / portals / atlases |
| SurvExpress | Databases / resources / portals / atlases |
| SurvMicro | Clinical / translational / patient-focused |
| SympGAN | Knowledge graphs / networks |
| SynaptopathyDB | Databases / resources / portals / atlases |
| TCIA: The Cancer Imaging Archive | Cancer / oncology |
| TCMBank: Trad Chinese Med Bank | Drug discovery / therapeutics / pharmacology |
| TIN-X | Databases / resources / portals / atlases |
| TOXPILOT | Pathways / systems biology / enrichment |
| TOXic Process Ontology (TXPO) | Ontology / semantics / knowledge representation |
| TRRUST | Databases / resources / portals / atlases |
| TSGene | Databases / resources / portals / atlases |
| TarKG | Drug discovery / therapeutics / pharmacology |
| Target Central Resource Database | Databases / resources / portals / atlases, Drug discovery / therapeutics / pharmacology |
| Target Central Resource Db | Databases / resources / portals / atlases, Clinical / translational / patient-focused |
| TargetMine | Databases / resources / portals / atlases, Drug discovery / therapeutics / pharmacology |
| TissueNexus | Knowledge graphs / networks, Pathways / systems biology / enrichment |
| ToxDAR | Multi-omics / genomics / transcriptomics |
| Translational Med Ontology (TMO) | Ontology / semantics / knowledge representation |
| UBKG | Knowledge graphs / networks |
| UFO | Ontology / semantics / knowledge representation |
| UPHO: Urban Pop Health Observ | Clinical / translational / patient-focused |
| UniCarbKB | Databases / resources / portals / atlases |
| VEuPathDB Ontology (eupath) | Ontology / semantics / knowledge representation |
| VICC | Cancer / oncology, Variant / mutation / genetic disease, Databases / resources / portals / atlases |
| VIPR: Virus Pathogen Resource | Databases / resources / portals / atlases |
| VRNetzer | Knowledge graphs / networks |
| Vaccine Informed Cons Ont (VICO) | Ontology / semantics / knowledge representation |
| Vaccine Ontology (VO) | Cancer / oncology, Ontology / semantics / knowledge representation |
| VarGuideAtlas | Databases / resources / portals / atlases |
| VectorBase | Databases / resources / portals / atlases, Multi-omics / genomics / transcriptomics |
| Viruses.STRING | Databases / resources / portals / atlases |
| Wikidata | Ontology / semantics / knowledge representation |
| Wikipathways | Databases / resources / portals / atlases |
| WormBase | Databases / resources / portals / atlases |
| XGR: eXploring Genomic Relations | Multi-omics / genomics / transcriptomics |
| Xenbase | Clinical / translational / patient-focused |
| YMLA: Yeast Multiple List Analyzer | Pathways / systems biology / enrichment |
| ZFIN | Databases / resources / portals / atlases, Clinical / translational / patient-focused |
| a GO tool | Pathways / systems biology / enrichment |
| biomappings | AI/ML / predictive modeling |
| brainMI | Clinical / translational / patient-focused |
| cBioportal | Databases / resources / portals / atlases |
| circRNADisease | Databases / resources / portals / atlases |
| clusterProfiler | Databases / resources / portals / atlases |
| comoRbidity | Clinical / translational / patient-focused |
| dbBact Kb | Databases / resources / portals / atlases |
| dbEMT | Databases / resources / portals / atlases |
| dcGOR | Databases / resources / portals / atlases |
| dictyBase | Databases / resources / portals / atlases |
| e-TSN | Clinical / translational / patient-focused |
| eGARD | Multi-omics / genomics / transcriptomics |
| eNanoMapper Ontology (ENM) | Ontology / semantics / knowledge representation |
| eRAM | Clinical / translational / patient-focused |
| eagle-i resource ontology (ERO) | Ontology / semantics / knowledge representation |
| eccDNABase | Databases / resources / portals / atlases |
| emiRIT: extract miRNA Info Text | Databases / resources / portals / atlases |
| hu.MAP: Hum Prot Complex Map | Databases / resources / portals / atlases, Multi-omics / genomics / transcriptomics |
| iBKH | Databases / resources / portals / atlases |
| iCTNet2 | Databases / resources / portals / atlases |
| iLncDA-LTR | Clinical / translational / patient-focused |
| iLncDA-RSN | Clinical / translational / patient-focused |
| iPiDA-GCN | Clinical / translational / patient-focused |
| iPiDA-LTR | Clinical / translational / patient-focused |
| iPiDA-SWGCN | Clinical / translational / patient-focused |
| iSG-PDA | Clinical / translational / patient-focused |
| iTextMine | NLP / text mining / literature mining |
| mTCTScan | Ontology / semantics / knowledge representation |
| metaCDA | AI/ML / predictive modeling |
| miR2Disease | Databases / resources / portals / atlases |
| miRTex | NLP / text mining / literature mining |
| mirDIP | Ontology / semantics / knowledge representation |
| ncRNAVar | Databases / resources / portals / atlases |
| pBRIT | Databases / resources / portals / atlases |
| preon | Cancer / oncology |
| scCT-DB | Databases / resources / portals / atlases |
| scMoresDB | Databases / resources / portals / atlases |
| sem1R | AI/ML / predictive modeling |
| signatureSearch | Multi-omics / genomics / transcriptomics |
| simona | Databases / resources / portals / atlases |
| tagger (tagcorpus) | AI/ML / predictive modeling |
| theRNA | Databases / resources / portals / atlases |
| tsRNADisease | Databases / resources / portals / atlases |
| Name | Category |
Details
How Were These Resources Identified?
The resources listed in the table were identified through programmatic searches of publications and conference presentations that cite the Disease Ontology, as well as through direct collaborations with the Disease Ontology project. The Disease Ontology team periodically reviews and curates this list to ensure its relevance and accuracy.
Scope of the Table
The table includes databases, web platforms, algorithms, methods, and ontologies that incorporate or were developed using the Disease Ontology. These resources are designed to support the broader biomedical research community by enabling data integration, ontology development, and clinical decision-making.
For-Profit Companies
The table also includes a few for-profit companies that utilize the Disease Ontology. While the specific details of their use are not publicly available, their inclusion highlights the broad applicability of the Disease Ontology across sectors.
Contribute to the List
If you know of additional resources, tools, or platforms that incorporate the Disease Ontology and could benefit the broader research community, please contact us.
Last updated: April 2026