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Home > Community > Publications

Papers Citing Disease Ontology

The Disease Ontology has been cited by more than 2,300 publications! A graphical representation of publications that cited the DO by year and publication type can be found on the statistics page. To look at individual publications that cited and used the DO, check out our lens.org and MyNCBI collections.

DO Project Publications


To cite your use of the Disease Ontology in your work, please cite one of these publications:

  • Baron JA, Johnson CMS, Schor MA, Olley D, Nickel L, Felix V, Bello SM, Greene C, Lichenstein R, Bisordi K, Koka R, Bearer C, Macatangay R, Ada N, Ballenger K, Bliss E, Colliver L, Dobbins G, Heitzig H, Dixon S, Semesky P, Garth J, Fairchild M, Gaskin P, Zahid S, Castillo R, Edwards S, Widjaja A, Usui Y, Lynch E, Clarkson M, Detwiler T, Schriml LM (2026). The DO-KB knowledgebase 2026 update: expanding programmatic and language access. Nucleic Acids Res, 2025 Nov 26:gkaf1213. doi: 10.1093/nar/gkaf1213. Epub ahead of print. PMID:41296549; PDF.

  • Baron JA, Johnson CS, Schor MA, Olley D, Nickel L, Felix V, Munro JB, Bello SM, Bearer C, Lichenstein R, Bisordi K, Koka R, Greene C, Schriml LM (2024). The DO-KB Knowledgebase: a 20-year journey developing the disease open science ecosystem. Nucleic Acids Research, 52(D1):D1305-D1314. doi: 10.1093/nar/gkad1051; PMID:37953304; PDF.
  • Schriml LM, Lichenstein R, Bisordi K, Bearer C, Baron JA, Greene C (2023). Modeling the enigma of complex disease etiology. Journal of Translational Medicine, 21(1):148. doi: 10.1186/s12967-023-03987-x; PMID:36829165; PDF.
  • Baron JA, Schriml LM (2023). Assessing resource use: a case study with the Human Disease Ontology. Database, 2023:baad007. doi: 10.1093/database/baad007; PMID:36856688; PDF.

  • Schriml LM, Munro JB, Schor M, Olley D, McCracken C, Felix V, Baron JA, Jackson R, Bello SM, Bearer C, Lichenstein R, Bisordi K, Dialo NC, Giglio M, Greene C (2022). The Human Disease Ontology 2022 update. Nucleic Acids Research, 50(D1):D1255–D1261. doi:10.1093/nar/gkab1063; PMID:34755882; PDF.
  • Schriml LM, Mitraka E, Munro J, Tauber B, Schor M, Nickle L, Felix V, Jeng L, Bearer C, Lichenstein R, Bisordi K, Campion N, Hyman B, Kurland D, Oates CP, Kibbey S, Sreekumar P, Le C, Giglio M, Greene C (2019). Human Disease Ontology 2018 update: Classification, content and workflow expansion. Nucleic Acids Research, 47(D1):D955–D962. doi:10.1093/nar/gky1032; PMID:30407550; PDF.
  • Bello SM, Shimoyama M, Mitraka E, Laulederkind SJF, Smith CL, Eppig JT, Schriml LM (2018). Disease Ontology: Improving and unifying disease annotations across species. Disease Models & Mechanisms, 11(3):dmm032839. doi:10.1242/dmm.032839; PMID:29590633; PDF.
  • Schriml LM, Mitraka E (2015). The Disease Ontology: Fostering interoperability between biological and clinical human disease-related data. Mammalian Genome, 26(9):584–589. doi:10.1007/s00335-015-9576-9; PMID:26093607; PDF.
  • Wu TJ, Schriml LM, Chen QR, Colbert M, Crichton DJ, Finney R, Hu Y, Kibbe WA, Kincaid H, Meerzaman D, Mitraka E, Pan Y, Smith KM, Srivastava S, Ward S, Yan C, Mazumder R (2015). Generating a focused view of disease ontology cancer terms for pan-cancer data integration and analysis. Database, 2015:bav032. doi:10.1093/database/bav032; PMID:25841438; PDF.
  • Kibbe WA, Arze C, Felix V, Mitraka E, Bolton E, Fu G, Mungall CJ, Binder JX, Malone J, Vasant D, Parkinson H, Schriml LM (2015). Disease Ontology 2015 update: An expanded and updated database of human diseases for linking biomedical knowledge through disease data. Nucleic Acids Research, 43(D1):D1071–D1078. doi:10.1093/nar/gku1011; PMID:25348409; PDF.
  • Schriml LM, Arze C, Nadendla S, Chang, YW, Mazaitis M, Felix V, Feng G, Kibbe WA (2012). Disease Ontology: A backbone for disease semantic integration. Nucleic Acids Research, 40(D1):D940–D946. doi:10.1093/nar/gkr972; PMID:22080554; PDF.
  • Osborne JD, Flatow J, Holko M, Lin SM, Kibbe WA, Zhu LJ, Danila MI, Feng G, Chisholm RL (2009). Annotating the human genome with Disease Ontology. BMC Genomics, 10(Suppl 1):S6. doi:10.1186/1471-2164-10-S1-S6; PMID:19594883; PDF.
  • Du P, Feng G, Flatow J, Song J, Holko M, Kibbe WA, Lin SM (2009). From disease ontology to disease-ontology lite: Statistical methods to adapt a general-purpose ontology for the test of gene-ontology associations. Bioinformatics, 25(12):i63–i68. doi:10.1093/bioinformatics/btp193; PMID:19478018; PDF.

DO Collaborative Publications

  • CIViCdb 2022: evolution of an open-access cancer variant interpretation knowledgebase (2023). PMID:36373660
  • Diseasomics: Actionable machine interpretable disease knowledge at the point-of-care (2022). PMID:36812614
  • A comprehensive update on CIDO: the community-based coronavirus infectious disease ontology (2022). PMID:36271389
  • A community approach to the cancer-variant-interpretation bottleneck (2022). PMID:35624339
  • COVID-19 biomarkers and their overlap with comorbidities in a disease biomarker data model (2021). PMID:34015823
  • Wikidata as a knowledge graph for the life sciences (2020). PMID:32180547
  • ECO, the Evidence & Conclusion Ontology: community standard for evidence information (2019). PMID:30407590
  • FoodOn: a harmonized food ontology to increase global food traceability, quality control and data integration (2018). PMID:31304272
  • Wikidata as a semantic framework for the Gene Wiki initiative (2016). PMID:26989148
  • The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease (2015). PMID:26119816
  • Generating a focused view of disease ontology cancer terms for pan-cancer data integration and analysis (2015). PMID:25841438
  • GeMInA, Genomic Metadata for Infectious Agents, a geospatial surveillance pathogen database (2010). PMID:19850722
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