Mondo: Integrating Disease Terminology Across Communities

Nicole A Vasilevsky¹, Sabrina Toro², Nicolas Matentzoglu³, Joseph E Flack⁴, Kathleen R Mullen⁵, Harshad Hegde⁶, Sarah Gehrke⁷, Patricia L Whetzel⁷, Yousif Shwetar⁸, Nomi L Harris⁹, Mee S Ngu⁷, Gioconda L Alyea¹⁰, Megan S Kane¹¹, Paola Roncaglia¹², Eric Sid¹³, Courtney L Thaxton⁷, Valerie Wood¹⁴, Roshini S Abraham¹⁵, Maria Isabel Achatz¹⁶, Pamela Ajuyah¹⁷, Joanna S Amberger¹⁸, Lawrence Babb¹⁹, Jasmine Baker²⁰, James P Balhoff²¹, Jonathan S Berg⁷, Amol Bhalla²², Xavier Bofill-De Ros²³, Ian R Braun¹, Eleanor C Broeren¹⁹, Blake K Byer², Alicia B Byrne²⁴, Tiffany J Callahan²⁵, Leigh C Carmody²⁶, Lauren E Chan²⁷, Amanda R Clause²⁸, Julie S Cohen²⁹, Marcello DeLuca³⁰, Natalie T Deuitch³¹, May Flowers³², Jamie Fraser³³, Toyofumi Fujiwara³⁴, Vanessa Gitau¹⁹, Jennifer L Goldstein³⁵, Dylan Gration³⁶, Tudor Groza³⁷, Benjamin M Gyori³⁸, William Hankey², Jason A Hilton³⁹, Daniel S Himmelstein⁴⁰, Stephanie S Hong⁴¹, Charles T Hoyt⁴², Robert Huether⁴³, Eric Hurwitz², Julius O B Jacobsen⁴⁴, Atsuo Kikuchi⁴⁵, Sebastian Köhler⁴⁶, Daniel R Korn², David Lagorce⁴⁷, Bryan J Laraway⁷, Jane Y Li⁴⁸, Adriana J Malheiro⁴⁹, James McLaughlin⁵⁰, Birgit H M Meldal⁵¹, Shruthi Mohan⁵², Sierra A T Moxon⁵³, Monica C Munoz-Torres⁵⁴, Tristan H Nelson⁵⁵, Frank W Nicholas⁵⁶, David Ochoa⁵⁷, Daniel Olson⁵⁸, Tudor I Oprea⁵⁹, Tomiko T Oskotsky⁶⁰, David Osumi-Sutherland⁶¹, Kelley Paris¹⁹, Helen E Parkinson⁶², Zoë M Pendlington⁶³, Xiao P Peng⁶⁴, Amy Pizzino⁶⁵, Sharon E Plon⁶⁶, Bradford C Powell⁷, Julie C Ratliff⁶⁷, Heidi L Rehm⁶⁸, Lyubov Remennik⁶⁹, Erin R Riggs⁵⁵, Sean Roberts⁷⁰, Peter N Robinson⁷¹, Justyne E Ross⁷², Kevin Schaper⁷, Brian M Schilder⁷³, Johanna L Schmidt⁶⁵, Elliott W Sharp⁷⁴, Morgan N Similuk⁷⁵, Damian Smedley⁴⁴, Tam P Sneddon⁷⁶, Rachel Sparks⁷⁷, Ray Stefancsik⁷⁸, Gregory S Stupp⁷⁹, Shilpa Sundar⁵, Terue Takatsuki⁸⁰, Imke Tammen⁸¹, Kezang C Tshering⁸², Deepak R Unni⁸³, Eloise Valasek⁸⁴, Adeline Vanderver⁶⁵, Alex H Wagner⁸⁵, Ryan F Webb¹⁷, Danielle Welter⁸⁶, Doron Yaya-Stupp⁸⁷, Andreas Zankl⁸⁸, Xingmin Aaron Zhang⁸⁹, Julie A McMurry², Christopher G Chute⁹⁰, Ada Hamosh⁹¹, Christopher J Mungall⁹², Melissa A Haendel²

Affiliations

¹ Critical Path Institute, Data Collaboration Center, Tucson, AZ 85718 USA.
² University of North Carolina at Chapel Hill, Genetics, Chapel Hill, NC 27514 USA.
³ Semanticly, Athens, 10563 Greece.
⁴ Johns Hopkins University, School of Medicine, Raleigh, NC 27617 USA.
⁵ University of North Carolina at Chapel Hill, Department of Genetics, Chapel Hill, NC 27514 USA.
⁶ Lawrence Berkeley National Laboratory, EGSB, Berkeley, California 94720 USA.
⁷ University of North Carolina at Chapel Hill, Genetics, Chapel Hill, NC 27599 USA.
⁸ University of North Carolina at Chapel Hill, Joint Department of Biomedical Engineering, Chapel Hill, NC 27519 USA.
⁹ Lawrence Berkeley National Laboratory, Environmental Genomics and Systems Biology Division, Berkeley, CA 94720 USA.
¹⁰ National Organization for Rare Disorders, Medical Affairs, Quincy, MA 02169 USA.
¹¹ National Library of Medicine, National Institutes of Health, National Center for Biotechnology Information, Bethesda, MD 20894 USA.
¹² SciBite, Ontologies Team, Hinxton, Cambridge, CB10 1DR UK.
¹³ National Institutes of Health, NCATS Division of Rare Diseases Research Innovation, Bethesda, WA 98332 USA.
¹⁴ University of Cambridge, Department of Biochemistry, Cambridge, CB2 1QW UK.
¹⁵ Nationwide Children's Hospital, Pathology and Laboratory Medicine, Columbus, OH, 43205 USA.
¹⁶ Hospital Sirio-Libanes, Oncologia, Sao Paulo, 01308901 Brasil.
¹⁷ Broad Institute of MIT and Harvard, Program in Medical and Population Genetics, Cambridge, MA 02142 USA.
¹⁸ Johns Hopkins University School of Medicine, Department of Medical Genetics, Baltimore, MD 21287 USA.
¹⁹ Broad Institute of MIT and Harvard, Medical and Population Genetics, Cambridge, MA 02142 USA.
²⁰ Baylor College of Medicine, Pediatrics-Oncology , Houston, TX 77030 USA.
²¹ University of North Carolina at Chapel Hill, RENCI, Chapel Hill, NC 27517 USA.
²² Intelligent Medical Objects, Global Clinical Services/Clinical Informatics, Rosemont, IL 60018 USA.
²³ Aarhus University, Department of Molecular Biology and Genetics, Aarhus, 8000 Denmark.
²⁴ Broad Institute of MIT and Harvard, Program in Medical and Population Genetics, Boston, MA 02140 USA.
²⁵ IBM Research, Accelerated Materials Discovery, San Jose, CA 95120 USA.
²⁶ Jackson Laboratory, Farmington, CT 06730 USA.
²⁷ University of Chicago, Pediatrics, Chicago, IL 60637 USA.
²⁸ Washington University in St. Louis, Neurology, St. Louis, MO 63130 USA.
²⁹ Kennedy Krieger Institute, Neurology and Developmental Medicine, Baltimore, MD 21205 USA.
³⁰ University of North Carolina at Chapel Hill, Department of Chemical Biology and Medicinal Chemistry, Chapel Hill, NC 27599 USA.
³¹ National Human Genome Research Institute, Translational and Functional Genomics Branch, Bethesda, MD 20892 USA.
³² University of North Carolina at Chapel Hill, Department of Genetics, Chapel Hill, NC 27560 USA.
³³ Children's National Hospital: Washington, D.C., Rare Disease Institute, Washington, DC20010 USA.
³⁴ Research Organization of Information and Systems, Database Center for Life Science, Kashiwa, Chiba 277-0871 Japan.
³⁵ University of North Carolina at Chapel Hill, Genetics, Chapel Hill, NC 27510 USA.
³⁶ King Edward Memorial Hospital, Western Australian Register of Developmental Anomalies, Perth, Western Australia 6008 Australia.
³⁷ Agency for Science, Technology and Research (A*STAR), Bioinformatics Institute (BII), Singapore, 138671 Singapore.
³⁸ Northeastern University, Khoury College of Computer Sciences, Boston, MA 02115 02445.
³⁹ Stanford University School of Medicine, Department of Biomedical Data Science, Stanford, CA 94305 USA.
⁴⁰ RadOverlay, Lebanon, NH 03766 USA.
⁴¹ John Hopkins University School of Medicine, General Internal Medicine, BIDS section, Baltimore, MD 21205 USA.
⁴² RWTH Aachen University, Institute of Inorganic Chemistry, Aachen, NRW 52074 Germany.
⁴³ Tempus AI, Department of Bioinformatics, Chicago, IL 60654 USA.
⁴⁴ Queen Mary University of London, William Harvey Research Institute, London, EC1M 6BQ UK.
⁴⁵ Tohoku University Graduate School of Medicine, Department of Pediatrics, Sendai, Miyagi 980-8574 Japan.
⁴⁶ Ada Health GmbH, AI, Berlin, 10179 Germany.
⁴⁷ INSERM, US14, PARIS, Paris, 75014 France.
⁴⁸ Every Cure, Tech Team, Philadelphia, PA 19104 USA.
⁴⁹ National Institutes of Health (NIH), National Center for Biotechnology Information (NCBI), National Library of Medicine (NLM), Bethesda, MD 20894 USA.
⁵⁰ EMBL-EBI, Samples, Phenotypes, and Ontologies (SPOT), Hinxton, CB10 1SA UK.
⁵¹ Pfizer UK, Pfizer Digital, Tadworth, Surrey KT20 7NS UK.
⁵² Duke University Health System, Pathology, Durham, NC 27705 USA.
⁵³ Lawrence Berkeley National Laboratory, EGSB, Berkeley, CA 94720 USA.
⁵⁴ University of Colorado Anschutz Medical Campus, Department of Biomedical Informatics, Aurora, CO 80045 USA.
⁵⁵ Geisinger, Department of Developmental Medicine, Danville, PA 17822 USA.
⁵⁶ University of Sydney, Sydney School of Veterinary Science, Sydney, NSW 2006 Australia.
⁵⁷ EMBL-EBI, Open Targets, Hinxton, Cambridgeshire, CB10 1SD UK.
⁵⁸ Critical Path Institute, Ontologies, Standards and Metadata, Tucson, AZ 85715 USA.
⁵⁹ Expert Systems Inc., San Diego, CA 92130 USA.
⁶⁰ University of California San Francisco, Division of Clinical Informatics and Digital Transformation, San Francisco, CA 94143 USA.
⁶¹ EMBL-EBI, Samples, Phenotypes and Ontologies, Hinxton, Cambridgeshire CB10 1SD UK.
⁶² European Bioinformatics Institute, EMBL-EBI, Knowledge Management Section, Hinxton, CB10 1SD UK.
⁶³ EMBL-EBI, Knowledge Management, Hinxton, N/A CB10 1SD UK.
⁶⁴ Montefiore Medical Center/Albert Einstein College of Medicine, Pediatrics/Genetics, Bronx, NY 10467 USA.
⁶⁵ Children's Hospital of Philadelphia, Neurology, Philadelphia, PA 19104 USA.
⁶⁶ Baylor College of Medicine, Pediatrics, Houston, TX 77030 USA.
⁶⁷ Broad Institute of MIT and Harvard, Medical and Population Genetics/Translational Genomics Group, Boston, MA 02134 USA.
⁶⁸ Massachusetts General Hospital; Broad Institute or MIT and Harvard, Center for Genomic Medicine; Medical and Population Genetics, Boston, MA 02114 USA.
⁶⁹ National Cancer Institute (NCI), CBIIT, Bethesda, MD 20850 USA.
⁷⁰ National Organization for Rare Disorders, Information Technology, Woodbury, CT 06798 USA.
⁷¹ Charité Universitätsmedizin Berlin, Berlin Institute of Health, Berlin, 10117 Germany.
⁷² University of North Carolina at Chapel Hill, Department of Genetics, Chapel Hill, NC 27707 USA.
⁷³ Cold Spring Harbor Laboratory, Quantitative Biology, Cold Spring Harbor, NY 11724 USA.
⁷⁴ Every Cure, Medical Team, Philadelphia, PA 19104 USA.
⁷⁵ National Institute of Allergy and Infectious Diseases, National Institutes of Health, Division of Intramural Research, Bethesda, MD 20892 USA.
⁷⁶ University of North Carolina at Chapel Hill, Department of Pathology and Laboratory Medicine/Department of Genetics, Chapel Hill, NC 27514 USA.
⁷⁷ National Institutes of Health, National Institute of Allergy & Infectious Diseases, Bethesda, MD 20892 USA.
⁷⁸ European Bioinformatics Institute (EMBL-EBI), Knowledge Management, Hinxton, CB10 1SD UK.
⁷⁹ Scripps Research Institute, Department of Integrative Structural and Computational Biology, La Jolla, CA 92037 USA.
⁸⁰ Database Center for Life Science Joint Support-Center for Data Science Research Research Organization of Information and Systems, Kashiwa, Chiba 277-0871 Japan.
⁸¹ The University of Sydney, Sydney School of Veterinary Science, Camden, NSW 2570 Australia.
⁸² Broad Institute of MIT and Harvard, Translational Genomics Group, Cambridge, MA 02142 USA.
⁸³ SIB Swiss Institute of Bioinformatics, Personalized Health Informatics Group, Basel 4051 Switzerland.
⁸⁴ The Lady Davis Institute for Medical Research, Clinical Epidemiology, Montreal, Quebec H3T 1E2 Canada.
⁸⁵ Nationwide Children's Hospital, Institute for Genomic Medicine, Columbus, OH 43215 USA.
⁸⁶ Luxembourg National Data Service, LNDS, Esch-sur-Alzette, 4362 Luxembourg.
⁸⁷ The Institute for Medical Research Israel-Canada, The Hebrew University of Jerusalem, Department of Developmental Biology and Cancer Research, Jerusalem, 9112001 Israel.
⁸⁸ The University of Sydney, Faculty of Medicine and Health, Sydney, NSW 2050 Australia.
⁸⁹ The Jackson Laboratory for Genomic Medicine, Farmington, CT 06032 USA.
⁹⁰ Johns Hopkins University, Schools of Medicine, Public Health, and Nursing, Baltimore, MD 21287 USA.
⁹¹ Johns Hopkins University, Department of Genetic Medicine, Baltimore, MD 21287-4922 USA.
⁹² Lawrence Berkeley National Laboratory, Environmental Genomics and Systems Biology, Berkeley, CA 94720 USA.

PMID: 41052288
DOI: 10.1093/genetics/iyaf215

Mondo: Integrating Disease Terminology Across Communities

Nicole A Vasilevsky et al. Genetics. 2025.

. 2025 Oct 6:iyaf215.

doi: 10.1093/genetics/iyaf215. Online ahead of print.

Authors

Affiliations

¹ Critical Path Institute, Data Collaboration Center, Tucson, AZ 85718 USA.
² University of North Carolina at Chapel Hill, Genetics, Chapel Hill, NC 27514 USA.
³ Semanticly, Athens, 10563 Greece.
⁴ Johns Hopkins University, School of Medicine, Raleigh, NC 27617 USA.
⁵ University of North Carolina at Chapel Hill, Department of Genetics, Chapel Hill, NC 27514 USA.
⁶ Lawrence Berkeley National Laboratory, EGSB, Berkeley, California 94720 USA.
⁷ University of North Carolina at Chapel Hill, Genetics, Chapel Hill, NC 27599 USA.
⁸ University of North Carolina at Chapel Hill, Joint Department of Biomedical Engineering, Chapel Hill, NC 27519 USA.
⁹ Lawrence Berkeley National Laboratory, Environmental Genomics and Systems Biology Division, Berkeley, CA 94720 USA.
¹⁰ National Organization for Rare Disorders, Medical Affairs, Quincy, MA 02169 USA.
¹¹ National Library of Medicine, National Institutes of Health, National Center for Biotechnology Information, Bethesda, MD 20894 USA.
¹² SciBite, Ontologies Team, Hinxton, Cambridge, CB10 1DR UK.
¹³ National Institutes of Health, NCATS Division of Rare Diseases Research Innovation, Bethesda, WA 98332 USA.
¹⁴ University of Cambridge, Department of Biochemistry, Cambridge, CB2 1QW UK.
¹⁵ Nationwide Children's Hospital, Pathology and Laboratory Medicine, Columbus, OH, 43205 USA.
¹⁶ Hospital Sirio-Libanes, Oncologia, Sao Paulo, 01308901 Brasil.
¹⁷ Broad Institute of MIT and Harvard, Program in Medical and Population Genetics, Cambridge, MA 02142 USA.
¹⁸ Johns Hopkins University School of Medicine, Department of Medical Genetics, Baltimore, MD 21287 USA.
¹⁹ Broad Institute of MIT and Harvard, Medical and Population Genetics, Cambridge, MA 02142 USA.
²⁰ Baylor College of Medicine, Pediatrics-Oncology , Houston, TX 77030 USA.
²¹ University of North Carolina at Chapel Hill, RENCI, Chapel Hill, NC 27517 USA.
²² Intelligent Medical Objects, Global Clinical Services/Clinical Informatics, Rosemont, IL 60018 USA.
²³ Aarhus University, Department of Molecular Biology and Genetics, Aarhus, 8000 Denmark.
²⁴ Broad Institute of MIT and Harvard, Program in Medical and Population Genetics, Boston, MA 02140 USA.
²⁵ IBM Research, Accelerated Materials Discovery, San Jose, CA 95120 USA.
²⁶ Jackson Laboratory, Farmington, CT 06730 USA.
²⁷ University of Chicago, Pediatrics, Chicago, IL 60637 USA.
²⁸ Washington University in St. Louis, Neurology, St. Louis, MO 63130 USA.
²⁹ Kennedy Krieger Institute, Neurology and Developmental Medicine, Baltimore, MD 21205 USA.
³⁰ University of North Carolina at Chapel Hill, Department of Chemical Biology and Medicinal Chemistry, Chapel Hill, NC 27599 USA.
³¹ National Human Genome Research Institute, Translational and Functional Genomics Branch, Bethesda, MD 20892 USA.
³² University of North Carolina at Chapel Hill, Department of Genetics, Chapel Hill, NC 27560 USA.
³³ Children's National Hospital: Washington, D.C., Rare Disease Institute, Washington, DC20010 USA.
³⁴ Research Organization of Information and Systems, Database Center for Life Science, Kashiwa, Chiba 277-0871 Japan.
³⁵ University of North Carolina at Chapel Hill, Genetics, Chapel Hill, NC 27510 USA.
³⁶ King Edward Memorial Hospital, Western Australian Register of Developmental Anomalies, Perth, Western Australia 6008 Australia.
³⁷ Agency for Science, Technology and Research (A*STAR), Bioinformatics Institute (BII), Singapore, 138671 Singapore.
³⁸ Northeastern University, Khoury College of Computer Sciences, Boston, MA 02115 02445.
³⁹ Stanford University School of Medicine, Department of Biomedical Data Science, Stanford, CA 94305 USA.
⁴⁰ RadOverlay, Lebanon, NH 03766 USA.
⁴¹ John Hopkins University School of Medicine, General Internal Medicine, BIDS section, Baltimore, MD 21205 USA.
⁴² RWTH Aachen University, Institute of Inorganic Chemistry, Aachen, NRW 52074 Germany.
⁴³ Tempus AI, Department of Bioinformatics, Chicago, IL 60654 USA.
⁴⁴ Queen Mary University of London, William Harvey Research Institute, London, EC1M 6BQ UK.
⁴⁵ Tohoku University Graduate School of Medicine, Department of Pediatrics, Sendai, Miyagi 980-8574 Japan.
⁴⁶ Ada Health GmbH, AI, Berlin, 10179 Germany.
⁴⁷ INSERM, US14, PARIS, Paris, 75014 France.
⁴⁸ Every Cure, Tech Team, Philadelphia, PA 19104 USA.
⁴⁹ National Institutes of Health (NIH), National Center for Biotechnology Information (NCBI), National Library of Medicine (NLM), Bethesda, MD 20894 USA.
⁵⁰ EMBL-EBI, Samples, Phenotypes, and Ontologies (SPOT), Hinxton, CB10 1SA UK.
⁵¹ Pfizer UK, Pfizer Digital, Tadworth, Surrey KT20 7NS UK.
⁵² Duke University Health System, Pathology, Durham, NC 27705 USA.
⁵³ Lawrence Berkeley National Laboratory, EGSB, Berkeley, CA 94720 USA.
⁵⁴ University of Colorado Anschutz Medical Campus, Department of Biomedical Informatics, Aurora, CO 80045 USA.
⁵⁵ Geisinger, Department of Developmental Medicine, Danville, PA 17822 USA.
⁵⁶ University of Sydney, Sydney School of Veterinary Science, Sydney, NSW 2006 Australia.
⁵⁷ EMBL-EBI, Open Targets, Hinxton, Cambridgeshire, CB10 1SD UK.
⁵⁸ Critical Path Institute, Ontologies, Standards and Metadata, Tucson, AZ 85715 USA.
⁵⁹ Expert Systems Inc., San Diego, CA 92130 USA.
⁶⁰ University of California San Francisco, Division of Clinical Informatics and Digital Transformation, San Francisco, CA 94143 USA.
⁶¹ EMBL-EBI, Samples, Phenotypes and Ontologies, Hinxton, Cambridgeshire CB10 1SD UK.
⁶² European Bioinformatics Institute, EMBL-EBI, Knowledge Management Section, Hinxton, CB10 1SD UK.
⁶³ EMBL-EBI, Knowledge Management, Hinxton, N/A CB10 1SD UK.
⁶⁴ Montefiore Medical Center/Albert Einstein College of Medicine, Pediatrics/Genetics, Bronx, NY 10467 USA.
⁶⁵ Children's Hospital of Philadelphia, Neurology, Philadelphia, PA 19104 USA.
⁶⁶ Baylor College of Medicine, Pediatrics, Houston, TX 77030 USA.
⁶⁷ Broad Institute of MIT and Harvard, Medical and Population Genetics/Translational Genomics Group, Boston, MA 02134 USA.
⁶⁸ Massachusetts General Hospital; Broad Institute or MIT and Harvard, Center for Genomic Medicine; Medical and Population Genetics, Boston, MA 02114 USA.
⁶⁹ National Cancer Institute (NCI), CBIIT, Bethesda, MD 20850 USA.
⁷⁰ National Organization for Rare Disorders, Information Technology, Woodbury, CT 06798 USA.
⁷¹ Charité Universitätsmedizin Berlin, Berlin Institute of Health, Berlin, 10117 Germany.
⁷² University of North Carolina at Chapel Hill, Department of Genetics, Chapel Hill, NC 27707 USA.
⁷³ Cold Spring Harbor Laboratory, Quantitative Biology, Cold Spring Harbor, NY 11724 USA.
⁷⁴ Every Cure, Medical Team, Philadelphia, PA 19104 USA.
⁷⁵ National Institute of Allergy and Infectious Diseases, National Institutes of Health, Division of Intramural Research, Bethesda, MD 20892 USA.
⁷⁶ University of North Carolina at Chapel Hill, Department of Pathology and Laboratory Medicine/Department of Genetics, Chapel Hill, NC 27514 USA.
⁷⁷ National Institutes of Health, National Institute of Allergy & Infectious Diseases, Bethesda, MD 20892 USA.
⁷⁸ European Bioinformatics Institute (EMBL-EBI), Knowledge Management, Hinxton, CB10 1SD UK.
⁷⁹ Scripps Research Institute, Department of Integrative Structural and Computational Biology, La Jolla, CA 92037 USA.
⁸⁰ Database Center for Life Science Joint Support-Center for Data Science Research Research Organization of Information and Systems, Kashiwa, Chiba 277-0871 Japan.
⁸¹ The University of Sydney, Sydney School of Veterinary Science, Camden, NSW 2570 Australia.
⁸² Broad Institute of MIT and Harvard, Translational Genomics Group, Cambridge, MA 02142 USA.
⁸³ SIB Swiss Institute of Bioinformatics, Personalized Health Informatics Group, Basel 4051 Switzerland.
⁸⁴ The Lady Davis Institute for Medical Research, Clinical Epidemiology, Montreal, Quebec H3T 1E2 Canada.
⁸⁵ Nationwide Children's Hospital, Institute for Genomic Medicine, Columbus, OH 43215 USA.
⁸⁶ Luxembourg National Data Service, LNDS, Esch-sur-Alzette, 4362 Luxembourg.
⁸⁷ The Institute for Medical Research Israel-Canada, The Hebrew University of Jerusalem, Department of Developmental Biology and Cancer Research, Jerusalem, 9112001 Israel.
⁸⁸ The University of Sydney, Faculty of Medicine and Health, Sydney, NSW 2050 Australia.
⁸⁹ The Jackson Laboratory for Genomic Medicine, Farmington, CT 06032 USA.
⁹⁰ Johns Hopkins University, Schools of Medicine, Public Health, and Nursing, Baltimore, MD 21287 USA.
⁹¹ Johns Hopkins University, Department of Genetic Medicine, Baltimore, MD 21287-4922 USA.
⁹² Lawrence Berkeley National Laboratory, Environmental Genomics and Systems Biology, Berkeley, CA 94720 USA.

PMID: 41052288
DOI: 10.1093/genetics/iyaf215

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 potential for diagnosis, clinical decision support, care outcome analysis, as well as data linkage across research domains to support the development or repurposing of therapeutics. There is a clear and pressing need for a unified system for managing disease entities ⁠- including identifiers, synonyms, and definitions. To address these issues, we created the Mondo disease ontology-a community-driven, open-source, unified disease classification system that harmonizes diverse terminologies into a consistent, computable framework. Mondo integrates key medical and biomedical terminologies, including Online Mendelian Inheritance in Man (OMIM), Orphanet, Medical Subject Headings (MeSH), National Cancer Institute Thesaurus (NCIt), and more, to provide a comprehensive and accurate representation of disease concepts with fully provenanced and attributed links back to the sources. Mondo can be used as the handle for curation of gene-disease associations utilized in diagnostic applications, research applications such as computational phenotyping, and in clinical coding systems in clinical decision support by pointing the clinician to the numerous knowledge resources linked to the Mondo identifier. Mondo's community-centric approach, stewarded by the Monarch Initiative's expertise in ontologies, ensures that the ontology remains adaptable to the evolving needs of biomedical research and clinical communities, as well as the knowledge providers.

Keywords: biomedical informatics; community-driven ontology; disease classification; disease integration; disease ontology; disease terminology; rare disease.

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Mondo: Integrating Disease Terminology Across Communities

Affiliations

Mondo: Integrating Disease Terminology Across Communities

Authors

Affiliations

Abstract

LinkOut - more resources

Full Text Sources

Medical