Mondo: Unifying diseases for the world, by the world
Open accessAbstract
There are thousands of distinct disease entities and concepts, each of which are known by different and sometimes contradictory names. The lack of a unified system for managing these entities poses a major challenge for both machines and humans that need to harmonize information to better predict causes and treatments for disease. The Mondo Disease Ontology is an open, community-driven ontology that integrates key medical and biomedical terminologies, supporting disease data integration to improve diagnosis, treatment, and translational research. Mondo records the sources of all data and is continually updated, making it suitable for research and clinical applications that require up-to-date disease knowledge.
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A systematic analysis of resources integrated into Mondo revealed nearly 10,500 unique rare diseases, in contrast to the commonly cited 7,000 figure.
“A systematic analysis of resources integrated into Mondo revealed nearly 10,500 unique rare diseases, in contrast to the commonly cited 7,000 figure (46).”
From Artificial Intelligence for Drug Discovery: Are We There Yet? (2024) · cites this paper as [46]
The Introduction says the authors’ systematic analysis across resources identified over 10,500 unique rare diseases. It says the often-quoted figure is 7,500, however, not 7,000; Table 2 separately lists 10,443 rare-disease concepts. (LLM, conf=0.88)
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References 18 · Cited by 107
Research works printed but not linked: 5
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- Authors
- Vasilevsky, N. A., Matentzoglu, N. A., Toro, S., Flack, J. E., Hegde, H., Unni, D. R., Alyea, G. F., Amberger, J. S., Babb, L., Balhoff, J. P., Bingaman, T. I., Burns, G. A., Buske, O. J., Callahan, T. J., Carmody, L. C., Cordo, P. C., Chan, L. E., Chang, G. S., Christiaens, S. L., Dumontier, M., Failla, L. E., Flowers, M. J., Garrett, H. A., Goldstein, J. L., Gration, D., Groza, T., Hanauer, M., Harris, N. L., Hilton, J. A., Himmelstein, D. S., Hoyt, C. T., Kane, M. S., Köhler, S., Lagorce, D., Lai, A., Larralde, M., Lock, A., López Santiago, I., Maglott, D. R., Malheiro, A. J., Meldal, B. H. M., Munoz-Torres, M. C., Nelson, T. H., Nicholas, F. W., Ochoa, D., Olson, D. P., Oprea, T. I., Osumi-Sutherland, D., Parkinson, H., Pendlington, Z. M., Rath, A., Rehm, H. L., Remennik, L., Riggs, E. R., Roncaglia, P., Ross, J. E., Shadbolt, M. F., Shefchek, K. A., Similuk, M. N., Sioutos, N., Smedley, D., Sparks, R., Stefancsik, R., Stephan, R., Storm, A. L., Stupp, D., Stupp, G. S., Sundaramurthi, J. C., Tammen, I., Tay, D., Thaxton, C. L., Valasek, E., Valls-Margarit, J., Wagner, A. H., Welter, D., Whetzel, P. L., Whiteman, L. L., Wood, V., Xu, C. H., Zankl, A., Zhang, X. A., Chute, C. G., Robinson, P. N., Mungall, C. J., Hamosh, A., & Haendel, M. A.
- Affiliations
- University of Colorado Anschutz (US)
- Johns Hopkins University (US)
- Lawrence Berkeley National Laboratory (US)
- Renaissance Computing Institute (US)
- Autism & Developmental Medicine Institute (US)
- Chan Zuckerberg Initiative (United States) (US)
- Columbia University (US)
- The Jackson Laboratory for Genomic Medicine (US)
- Oregon State University (US)
- National Cancer Institute (US)
- National Institute of Allergy and Infectious Diseases (US)
- Invitae (United States) (US)
- University of North Carolina at Chapel Hill (US)
- Government of Western Australia (AU)
- European Bioinformatics Institute (GB)
- Inserm (FR)
- Stanford University (US)
- Harvard University (US)
- National Institutes of Health (US)
- Boston Children's Hospital (US)
- European Molecular Biology Laboratory (DE)
- Geisinger Health System (US)
- The University of Sydney (AU)
- Critical Path Institute (US)
- University of New Mexico Health Sciences Center (US)
- Broad Institute (US)
- Helix (United States) (US)
- Queen Mary University of London (GB)
- Hebrew University of Jerusalem (IL)
- Scripps Research Institute (US)
- Jewish General Hospital (CA)
- Nationwide Children's Hospital (US)
- University of Luxembourg (LU)
- University of Cambridge (GB)
- Jackson Laboratory (US)
- Corresponding author
- Vasilevsky, Nicole A
- ORCID
- Vasilevsky, Nicole A
- Matentzoglu, Nicolas A
- Toro, Sabrina
- Flack, Joseph E
- Hegde, Harshad
- Unni, Deepak R
- Alyea, Gioconda F
- Amberger, Joanna S
- Babb, Larry
- Balhoff, James P
- Bingaman, Taylor I
- Burns, Gully A
- Buske, Orion J
- Callahan, Tiffany J
- Carmody, Leigh C
- Cordo, Paula Carrio
- Chan, Lauren E
- Chang, George S
- Christiaens, Sean L
- Dumontier, Michel
- Failla, Laura E
- Flowers, May J
- Garrett, H. Alpha
- Goldstein, Jennifer L
- Gration, Dylan
- Groza, Tudor
- Hanauer, Marc
- Harris, Nomi L
- Hilton, Jason A
- Himmelstein, Daniel S
- Hoyt, Charles Tapley
- Kane, Megan S
- Köhler, Sebastian
- Lagorce, David
- Lai, Abbe
- Larralde, Martin
- Lock, Antonia
- López Santiago, Irene
- Maglott, Donna R
- Malheiro, Adriana J
- Meldal, Birgit H M
- Munoz-Torres, Monica C
- Nelson, Tristan H
- Nicholas, Frank W
- Ochoa, David
- Olson, Daniel P
- Oprea, Tudor I
- Osumi-Sutherland, David
- Parkinson, Helen
- Pendlington, Zoë May
- Rath, Ana
- Rehm, Heidi L
- Riggs, Erin R
- Roncaglia, Paola
- Ross, Justyne E
- Shadbolt, Marion F
- Shefchek, Kent A
- Similuk, Morgan N
- Smedley, Damian
- Sparks, Rachel
- Stefancsik, Ray
- Stephan, Ralf
- Storm, Andrea L
- Stupp, Doron
- Stupp, Gregory S
- Sundaramurthi, Jagadish Chandrabose
- Tammen, Imke
- Tay, Darin
- Thaxton, Courtney L
- Valasek, Eloise
- Valls-Margarit, Jordi
- Wagner, Alex H
- Welter, Danielle
- Whetzel, Patricia L
- Whiteman, Lori L
- Wood, Valerie
- Xu, Colleen H
- Zankl, Andreas
- Zhang, Xingmin Aaron
- Chute, Christopher G
- Robinson, Peter N
- Mungall, Christopher J
- Hamosh, Ada
- Haendel, Melissa A
- Venue
- medRxiv
- Publisher
- openRxiv
- Published
- 2022-04-16
- OpenAlex
- W4224037213
- Cited by
- 107
- References
- 18
- Citations by year
- 2026: 14 · 2025: 33 · 2024: 43 · 2023: 14 · 2022: 3
- Type
- posted content
- Language
- en
- Open access
- green
- doi.org
- Licence
- cc-by
- Locations
- medRxiv (acceptedVersion, cc-by)
- Funders
- National Institutes of Health (R24OD011883)
- National Human Genome Research Institute (RM1HG010860)
- NIH Office of the Director (5R24 OD011883)
- U.S. National Library of Medicine
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Biomedical Text Mining and Ontologies
- Physical Sciences › Computer Science › Artificial Intelligence › Semantic Web and Ontologies
- Health Sciences › Health Professions › Health Information Management › Medical Coding and Health Information
- Keywords
- Mondo Disease Ontology, disease ontology, disease terminology, biomedical terminology, translational research
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