Peer-Reviewed Publication
Genetics2026;232(4)April 4, 2026Journal Article
Mondo: integrating disease terminology across communities.
Nicole A Vasilevsky1, Sabrina Toro2, Nicolas Matentzoglu3, Joseph E Flack4, Kathleen R Mullen2, Harshad Hegde5, Sarah Gehrke6, Patricia L Whetzel6, Yousif Shwetar7, Nomi L Harris5, Mee S Ngu6, Gioconda L Alyea8, Megan S Kane9, Paola Roncaglia10, Eric Sid11, Courtney L Thaxton6, Valerie Wood12, Roshini S Abraham13, Maria Isabel Achatz14, Pamela Ajuyah15, Joanna S Amberger16, Lawrence Babb17, Jasmine Baker18, James P Balhoff19, Jonathan S Berg6, Amol Bhalla20, Xavier Bofill-De Ros21, Ian R Braun1, Eleanor C Broeren17, Blake K Byer2, Alicia B Byrne22, Tiffany J Callahan23, Leigh C Carmody24, Lauren E Chan25, Amanda R Clause26, Julie S Cohen27, Marcello DeLuca28, Natalie T Deuitch29, May Flowers30, Jamie Fraser31, Toyofumi Fujiwara32, Vanessa Gitau17, Jennifer L Goldstein33, Dylan Gration34, Tudor Groza35, Benjamin M Gyori36, William Hankey2, Jason A Hilton37, Daniel S Himmelstein38, Stephanie S Hong39, Charles T Hoyt40, Robert Huether41, Eric Hurwitz2, Julius O B Jacobsen42, Atsuo Kikuchi43, Sebastian Köhler44, Daniel R Korn2, David Lagorce45, Bryan J Laraway6, Jane Y Li46, Adriana J Malheiro9, James McLaughlin47, Birgit H M Meldal48, Shruthi Mohan49, Sierra A T Moxon5, Monica C Munoz-Torres50, Tristan H Nelson51, Frank W Nicholas52, David Ochoa53, Daniel Olson54, Tudor I Oprea55, Tomiko T Oskotsky56, David Osumi-Sutherland57, Kelley Paris17, Helen E Parkinson58, Zoë M Pendlington58, Xiao P Peng59, Amy Pizzino60, Sharon E Plon61, Bradford C Powell6, Julie C Ratliff62, Heidi L Rehm63, Lyubov Remennik64, Erin R Riggs51, Sean Roberts65, Peter N Robinson66, Justyne E Ross67, Kevin Schaper6, Brian M Schilder68, Johanna L Schmidt61, Elliott W Sharp69, Morgan N Similuk70, Damian Smedley42, Tam P Sneddon71, Rachel Sparks72, Ray Stefancsik58, Gregory S Stupp73, Shilpa Sundar2, Terue Takatsuki74, Imke Tammen75, Kezang C Tshering76, Deepak R Unni77, Eloise Valasek78, Adeline Vanderver61, Alex H Wagner79, Ryan F Webb15, Danielle Welter80, Doron Yaya-Stupp81, Andreas Zankl82, Xingmin Aaron Zhang83, Julie A McMurry2, Christopher G Chute84, Ada Hamosh85, Christopher J Mungall5, Melissa A Haendel2
1Data Collaboration Center, Critical Path Institute, Tucson, AZ 85718, United States.
2Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27514, United States.
3Semanticly, Athens 10563, Greece.
4School of Medicine, Johns Hopkins University, Raleigh, NC 27617, United States.
5Lawrence Berkeley National Laboratory, EGSB, Berkeley, CA 94720, United States.
6Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, United States.
7Joint Department of Biomedical Engineering, University of North Carolina at Chapel Hill, Chapel Hill, NC 27519, United States.
8National Organization for Rare Disorders, Medical Affairs, Quincy, MA 02169, United States.
9National Library of Medicine, National Institutes of Health, National Center for Biotechnology Information, Bethesda, MD 20894, United States.
10Elsevier SciBite, Curation Team, Hinxton, Cambridge CB10 1DR, United Kingdom.
11NCATS Division of Rare Diseases Research Innovation, National Institutes of Health, Bethesda, WA 98332, United States.
12Department of Biochemistry, University of Cambridge, Cambridge CB2 1QW, United Kingdom.
13Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH 43205, United States.
14Department of Oncologia, Hospital Sirio-Libanes, Sao Paulo, SP 01308-901, Brazil.
15Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States.
16Department of Medical Genetics, Johns Hopkins University School of Medicine, Baltimore, MD 21287, United States.
17Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States.
18Department of Pediatrics-Oncology, Baylor College of Medicine, Houston, TX 77030, United States.
19RENCI, University of North Carolina at Chapel Hill, Chapel Hill, NC 27517, United States.
20Global Clinical Services/Clinical Informatics, Intelligent Medical Objects, Rosemont, IL 60018, United States.
21Department of Molecular Biology and Genetics, Aarhus University, Aarhus 8000, Denmark.
22Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Boston, MA 02140, United States.
23IBM Research Accelerated Materials Discovery, San Jose, CA 95120, United States.
24Jackson Laboratory, Farmington, CT 06730, United States.
25Department of Pediatrics, University of Chicago, Chicago, IL 60637, United States.
26Department of Neurology, Washington University in St. Louis, St. Louis, MO 63130, United States.
27Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD 21205, United States.
28Department of Chemical Biology and Medicinal Chemistry, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, United States.
29Translational and Functional Genomics Branch, National Human Genome Research Institute, Bethesda, MD 20892, United States.
30Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27560, United States.
31Children's National Hospital: Washington, D.C., Rare Disease Institute, Washington, DC 20010, United States.
32Database Center for Life Science, Research Organization of Information and Systems, Kashiwa, Chiba 277-0871, Japan.
33Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27510, United States.
34Western Australian Register of Developmental Anomalies, King Edward Memorial Hospital, Perth, Western Australia 6008, Australia.
35Agency for Science, Technology and Research (A*STAR), Bioinformatics Institute (BII), Singapore 138671, Singapore.
36Khoury College of Computer Sciences, Northeastern University, Boston, MA 02115 02445, United States.
37Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, CA 94305, United States.
38RadOverlay, Lebanon, NH 03766, United States.
39General Internal Medicine, BIDS Section, John Hopkins University School of Medicine, Baltimore, MD 21205, United States.
40RWTH Aachen University, Institute of Inorganic Chemistry, Aachen, NRW 52074, Germany.
41Department of Bioinformatics, Tempus AI, Chicago, IL 60654, United States.
42Queen Mary University of London, William Harvey Research Institute, London EC1M 6BQ, United Kingdom.
43Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Miyagi 980-8574, Japan.
44Ada Health GmbH, AI, Berlin 10179, Germany.
45INSERM, US14, PARIS, Paris 75014, France.
46Every Cure, Tech Team, Philadelphia, PA 19104, United States.
47EMBL-EBI, Samples, Phenotypes, and Ontologies (SPOT), Hinxton CB10 1SA, United Kingdom.
48Pfizer UK, Pfizer Digital, Tadworth, Surrey KT20 7NS, United Kingdom.
49Department of Pathology, Duke University Health System, Durham, NC 27705, United States.
50Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, United States.
51Department of Developmental Medicine, Geisinger, Danville, PA 17822, United States.
52Sydney School of Veterinary Science, University of Sydney, Sydney, NSW 2006, Australia.
53EMBL-EBI, Open Targets, Hinxton, Cambridgeshire CB10 1SD, United Kingdom.
54Ontologies, Standards and Metadata, Critical Path Institute, Tucson, AZ 85715, United States.
55Expert Systems Inc., San Diego, CA 92130, United States.
56Division of Clinical Informatics and Digital Transformation, University of California San Francisco, San Francisco, CA 94143, United States.
57EMBL-EBI, Samples, Phenotypes and Ontologies, Hinxton, Cambridgeshire CB10 1SD, United Kingdom.
58EMBL-EBI, Knowledge Management Section, European Bioinformatics Institute, Hinxton CB10 1SD, United Kingdom.
59Department of Pediatrics/Genetics, Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY 10467, United States.
60Department of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States.
61Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, United States.
62Medical and Population Genetics/Translational Genomics Group, Broad Institute of MIT and Harvard, Boston, MA 02134, United States.
63Center for Genomic Medicine; Medical and Population Genetics, Massachusetts General Hospital; Broad Institute or MIT and Harvard, Boston, MA 02114, United States.
64CBIIT, National Cancer Institute (NCI), Bethesda, MD 20850, United States.
65National Organization for Rare Disorders, Information Technology, Woodbury, CT 06798, United States.
66Charité Universitätsmedizin Berlin, Berlin Institute of Health, Berlin 10117, Germany.
67Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27707, United States.
68Quantitative Biology, Cold Spring Harbor Laboratory, Cold Spring Harbor, NY 11724, United States.
69Every Cure, Medical Team, Philadelphia, PA 19104, United States.
70Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, United States.
71Department of Pathology and Laboratory Medicine/Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27514, United States.
72National Institutes of Health, National Institute of Allergy & Infectious Diseases, Bethesda, MD 20892, United States.
73Department of Integrative Structural and Computational Biology, Scripps Research Institute, La Jolla, CA 92037, United States.
74Database Center for Life Science Joint Support-Center for Data Science Research Research Organization of Information and Systems, Kashiwa, Chiba 277-0871, Japan.
75Sydney School of Veterinary Science, The University of Sydney, Camden, NSW 2570, Australia.
76Translational Genomics Group, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States.
77Personalized Health Informatics Group, SIB Swiss Institute of Bioinformatics, Basel 4051, Switzerland.
78Clinical Epidemiology, The Lady Davis Institute for Medical Research, Montreal, Quebec H3T 1E2, Canada.
79Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH 43215, United States.
80Luxembourg National Data Service, LNDS, Esch-sur-Alzette 4362, Luxembourg.
81Department of Developmental Biology and Cancer Research, The Institute for Medical Research Israel-Canada, The Hebrew University of Jerusalem, Jerusalem 9112001, Israel.
82Faculty of Medicine and Health, The University of Sydney, Sydney, NSW 2050, Australia.
83The Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, United States.
84Schools of Medicine, Public Health, and Nursing, Johns Hopkins University, Baltimore, MD 21287, United States.
85Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD 21287-4922, United States.
Abstract
Precision medicine aims to enhance diagnosis, treatment, and prognosis by integrating multimodal data at the point of care. However, challenges arise due to the vast number of diseases, differing methods of classification, and conflicting terminological coding systems and practices used to represent molecular definitions of disease. This lack of interoperability artificially constrains the potenti…
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