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Home > Community > Use Cases

Use Cases

The Disease Ontology is utilized extensively in biomedical and bioinformatics research, by both scientists conducting primary research and those creating research tools for others. Some of those research tools designed for reuse by the broader scientific community that have used the Disease Ontology are listed here. These have been grouped into four categories: ontologies, resources, methodologies, and other uses.

Ontologies

The Disease Ontology is utilized to build other biomedical ontologies. These application ontologies either reuse DO's terms and/or IDs (often as PURLs, unique URL based IDs, e.g. http://purl.obolibrary.org/obo/DOID_4) or map to DOIDs as ontology cross references (xrefs), synonyms or annotations. To date, the Disease Ontology is being utilized by more than 50 other biomedical ontologies:

Allotrope Foundation Ont (AFO) Fuzzy Ont Obesity Cancer (FOORC) Obstet and Neonatal Ont (OntONeo)
Antibiotic Resistance Ont (ARO) Gend, Sex & Sex Orien Ont (GSSO) Ont Host-Microbiom Interact (OHMI)
Apollo Structured Vocabulary Genomic Epi Ont (GenEpiO) Ont of Drug Adverse Events (ODAE)
BioAssay Ontology (BAO) Glycoconjugate Ont (GlycoCoO) Ont of Host Pathogen Inter (OHPI)
Breast Cancer Fuzzy Ont (BCFO) Guideline Provenance Ont (G-Prov) Ont of Precis Med & Investig (OPMI)
Cardiovasc Dis Ontology (CVDO) Hearing Impairment Ontology (HIO) Ontology for Biobanking (OBIB)
Cell Culture Ontology (CCONT) HHEAR Ontology Ontology for Biomed Investig (OBI)
Cell Line Ontology (CLO) Hum Physiol Simul Ont (HuPSON) Ontology for Gen Med Sci (OGMS)
CHEAR Ontology Human Phenotype Ontology (HP) Ontology for MIRNA Target (OMIT)
ChemFOnt Hypertension Ontology (HTN) Ontology of Adverse Events (OAE)
Coronavirus Infect Dis Ont (CIDO) Infectious Disease Ontology (IDO) Pre-Eclampsia Ontology (PE-O)
Data Use Ontology (DUO) Influenza Ontology (FLU) Protein Ontology (PRO)
Dermatological Dis Ont (DermO) Informed Consent Ontology (ICO) Public Health Doc Ont (OntoPH)
Diabetes Mellit Treat Ont (DMTO) Mental Disease Ontology (MFOMD) Quant Histopath Image Ont (QHIO)
Dog Disease Trait Ont (DDTO) Metabolomics Stand Init Ont (MSIO) Quant Imag Biomarker Ont (QIBO)
Drug Interact & Evid Ont (DIDEO) MicrO Radiology Gamuts Ontology (RGO)
Drug Target Ontology (DTO) Mondo Disease Ontology (MONDO) Sickle Cell Disease Ont (SCDO)
eagle-i resource ontology (ERO) Mouse Pathology Ont (MPATH) TOXic Process Ontology (TXPO)
eNanoMapper Ontology (ENM) Myocardial Infarction Ont (MIO) Translational Med Ontology (TMO)
Exercise Med Ontology (EXMO) Neural Electro Magnet Ont (NEMO) Vaccine Informed Cons Ont (VICO)
Experimental Factor Ontology (EFO) NIF Standardized Onts (NIFSTD) Vaccine Ontology (VO)
FoodOn Non-Coding RNA Ontology (NCRO) VEuPathDB Ontology (eupath)

Resources

We actively seek collaborations with other data resources and users to improve data integration, share efforts, and make our data maximally useful to biologists and bioinformaticians. Here are a list of databases, software tools and other web resources that: i) support the use of DO data, ii) have integrated or were built using DO data, or iii) provide data linkages to the DO website. If we are missing your database, software tool or web resource, please contact us.

a GO tool ECGene: Endometr Cancer G Db MosaicBase
AAgAtlas: Human AutoAntigen Db EDK: Editome Dis Kb MouseMine
ABCkb Egas mTCTScan
ADEPTUS EHD dataset My Corporis Fabrica Embryo
African Human Microbiome Portal emiRIT: extract miRNA Info Text Mycobacteriaceae Phenome Atlas
AllEnricher EMMA MyDisease.info
AllerGAtlas ENCODE: Encyc of DNA Elements MyGeneset.info
Alliance of Genome Resources Endless Forms Studios NAFLDkb
AlzKB: Alzheimer’s KB EnrichDO NCATS Inxight Drugs
Annot eRAM NCBO Ontology Recommender
ARAX EXPERT ncRNAVar
Arena-Idb EXTRACT NetMe
Argo FAIRsharing NutriChem
ASDmiR FANTOM OCDB: OCD Database
ATD: Autophagy To Disease FARNA OMIM
AuDis FHOntology OnASSIs
AutismKB FibroAtlas OncoKB
BALDR Flame OncoMX
BEAVR FlyBase OncoPDSS
Bio-SimLex FooDis: Food-disease mining OneStopRNAseq
Bio-SimVerb GeMI: Genom Meta Integration OnTheFly2.0
Bio2RDF Gemma OntoCAT
BioASQ GEN: Gene Expression Nebulas Ontoclick
BioASQ-QA GenCoNet OntoGene
BioCreative V GeneCards Ontology Extension
BioDataome Genekitr OntoTiger
BioGrid GenePlexus OpenXGR
biomappings GeneWeaver OVA: Onto Variant Analysis Tool
BiomarkerKB GeneWiki+ Pan-ReDU
BioMedGraphica GenIA Pancreatlas
Biomodels GenomeConnect PathoPhenoDB
BioMuta GlutKNOIS: Gluten Interactions Db PATRIC
BIONDA Glyconnect pBRIT
BioPortal GlyCosmos Portal PDX-MI
BioTAGME Glycowork PedAM
BioThings API ecosystem GlyGen Pedican: Pediatric cancer gene Db
BioWES Google Petagraph
BioXpress GSC: Genomic Stand Consortium Pharmacorank
BLAT2DOLite GTO: Gene Therapy Omnibus PharMeBINet
BO-LSTM Guide to PHARMACOLOGY Pharos
BrainBase GVViZ: Vis Genes with Dis Variants PhaSeDis
BRD: Biosurveillance Resource Dir GWAS Central Phen2Gene
Cancer Genome Interpreter GWASdb PhenCards
CancerMIRNome GXD: Mouse Gene Expression Db Phenolyzer
CBGDA Harmonizome-ML Appyter Phenomebrowser
cBioportal HDncRNA: Heart Dis ncRNA Db PhenoMiner
CCAS HDO.db PhenoQC
CEDAR Heart Failure Integrated Platform Phevor2
CEDAR OnDemand HemI: Heatmap Illustrator PICMOA
Cell Marker Accordion HERB: Traditional Chinese Med Db PK-DB: Pharmacokinetics Db
Cell Taxonomy Hetionet PlasmiR
CellResDB HGPEC PlateletBase
CFDE: Common Fund Data Ecosystem HisgAtlas PLSDB: Plasmid Db
ChemDIS HITSZ_CDR POEAS
ChIPseeker HMDC: Human-Mouse Dis Connect Populous
Circ2Disease HMDD: Human MicroRNA Dis Db PORI
CircR2Cancer hu.MAP: Hum Prot Complex Map PosMed: Positional MEDLINE
circRNADisease HumanMetagenomeDB preon
CIViC iBKH PSINDB: Postsynaptic Inter Db
CIViCMine iCTNet2 PUTransGCN
ClinGen IEDB: Immune Epitope Db QueryOR
clusterProfiler iLncDA-LTR Quest Diagnostics
COEXPEDIA ImmPort R-loopBase
COGR: Canadian Open Genet Repo IMPPAT RareDis
CoMentG Integrated Interactions Db Reactome
comoRbidity Integrative Multispecies Prediction REGene
CoNVaQ InterMine ResMarkerDB
COSMONET iProX RetroInspector
COVID-19Base IRIDA: Integr Rapid Infect Dis Anal RGD: Rat Genome Db
CryptoGene DB Isabl Platform RIKEN Bioresource MetaDatabase
CSgator: Compound Set Navigator IsoDA: Isoform-Dis Assoc predict RIscoper
CSGene: Cell Senesc Gene Db iTextMine RNA2Immune
CTD2: Cancer Target Discov & Dev JAX Clinical CKB RNADisease
CTD: Compar Toxicogenomic Db JAX Synteny Browser ROBOT
CTR-DB KGETCDA RUGGED
D2H2 KGEV: KGraph Explor and Visual scMoresDB
DAISY: Data Information System Kids Brain Health Network sem1R
DanioNet Know2BIO SGD: Saccharomyces Genome Db
Darling KOBAS signatureSearch
dbBact Kb Lantern simona
dbEMT Leipzig Health Atlas SPOKE
DcGO LeMeDISCO SugarbindDB
dcGOR LeukmiR SurvExpress
DDKG: Data Distillery KG LINCS SurvMicro
DeCoaD Linked Open Data Cloud SympGAN
DeepciRGO List2Net SynaptopathyDB
DeepGO Literome tagger (tagcorpus)
DEEPScreen LiverAtlas Target Central Resource Db
DES-Amyloidosis LiverWiki TargetMine
DES-Mutation Lnc2Meth TarKG
DES-ROD: RNA Oxid & Dis LncPCD TCIA: The Cancer Imaging Archive
DES-Tcell LncRNADisease TCMBank: Trad Chinese Med Bank
DEXTER LncTarD TIN-X
DGA: Disease and Gene Annot LORD TissueNexus
dictyBase LSD600 ToxDAR
Digital Phenotype Explorer Lynx TOXPILOT
DincRNA MalaCards TRRUST
Disease Maps MarkerDB TSGene
DISEASES MEDIC tsRNADisease
Diseasomics knowledge system MEDICASCY UBKG
DisGeNET MedKG UFO
DiSignAtlas MeFSAT UniCarbKB
DISNET MendelVar VarGuideAtlas
DISNOR MER: Minimal Entity Recognizer VectorBase
DisPhaseDB MetaScape VICC
DisSetSim MetaSRA VIPR: Virus Pathogen Resource
DisSim MethBank Viruses.STRING
DoCM: Db of Curated Mutations MetSigDis: Metab Signat of Dis Db Wikidata
DODO: Dict of Dis Ontologies MFF-nDA Wikipathways
DOSE: DO Semant Enrich analysis MGI: Mouse Genome Informatics WormBase
DOSim miR2Disease Xenbase
DrugCentral mirDIP XGR: eXploring Genomic Relations
DrugNet miRTex YMLA: Yeast Multiple List Analyzer
e-TSN MOPED ZFIN
eccDNABase MORPHIN

Methodologies

Many algorithms, frameworks, software tools, workflows and state-of-the art methods designed for (re)use and implementation by the scientific community incorporate the Disease Ontology. These "methodologies", which have not been incorporated into an existing software tool, database, or web resource or are not freely available, include:

Alzheimer Gene Assoc Classifier GeneSurrounder MEDSHARE
ANDES GGCDA metaCDA
BioNELL GSWHomoNet MicroPIE
BPLLDA HIT MSMCDA
brainMI IDDAP MultiDS-MDA
BRWLDA iLncDA-RSN OM-GGAT
CDA-SKAG InfAcrOnt Oncodomains
Cognitive DDx Asst in Rare Dis IntNetLncSim ORPheUS
CVSARRP iPiDA-GCN PanGIA
DDCM: Disease-Drug Corr Method iPiDA-LTR PPDAMEGCN
DHOSGR iPiDA-SWGCN PreOptique
DLMPM iSG-PDA PRISM
Drug-Combo-Generator LDAGM RGCNCDA
EFM2BF LEDAP RMDGCN
eGARD M2PP SVMDO
EHDChat MAGCNSE UPHO: Urban Pop Health Observ
EPOM: Epigen Overlap Measure MedGraphNet VRNetzer
GCDSAEMDA

Other Uses

Other select examples in which the Disease Ontology has been used:

Hartwig Medical Foundation Olink Proteomics Services
Last updated: January 2026
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