Mondo: integrating disease terminology across communities.

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Title: Mondo: integrating disease terminology across communities.
Authors: Vasilevsky NA; Data Collaboration Center, Critical Path Institute, Tucson, AZ 85718, United States., Toro S; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27514, United States., Matentzoglu N; Semanticly, Athens 10563, Greece., Flack JE; School of Medicine, Johns Hopkins University, Raleigh, NC 27617, United States., Mullen KR; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27514, United States., Hegde H; Lawrence Berkeley National Laboratory, EGSB, Berkeley, CA 94720, United States., Gehrke S; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, United States., Whetzel PL; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, United States., Shwetar Y; Joint Department of Biomedical Engineering, University of North Carolina at Chapel Hill, Chapel Hill, NC 27519, United States., Harris NL; Lawrence Berkeley National Laboratory, EGSB, Berkeley, CA 94720, United States., Ngu MS; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, United States., Alyea GL; National Organization for Rare Disorders, Medical Affairs, Quincy, MA 02169, United States., Kane MS; National Library of Medicine, National Institutes of Health, National Center for Biotechnology Information, Bethesda, MD 20894, United States., Roncaglia P; Elsevier SciBite, Curation Team, Hinxton, Cambridge CB10 1DR, United Kingdom., Sid E; NCATS Division of Rare Diseases Research Innovation, National Institutes of Health, Bethesda, WA 98332, United States., Thaxton CL; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, United States., Wood V; Department of Biochemistry, University of Cambridge, Cambridge CB2 1QW, United Kingdom., Abraham RS; Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH 43205, United States., Achatz MI; Department of Oncologia, Hospital Sirio-Libanes, Sao Paulo, SP 01308-901, Brazil., Ajuyah P; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States., Amberger JS; Department of Medical Genetics, Johns Hopkins University School of Medicine, Baltimore, MD 21287, United States., Babb L; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States., Baker J; Department of Pediatrics-Oncology, Baylor College of Medicine, Houston, TX 77030, United States., Balhoff JP; RENCI, University of North Carolina at Chapel Hill, Chapel Hill, NC 27517, United States., Berg JS; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, United States., Bhalla A; Global Clinical Services/Clinical Informatics, Intelligent Medical Objects, Rosemont, IL 60018, United States., Bofill-De Ros X; Department of Molecular Biology and Genetics, Aarhus University, Aarhus 8000, Denmark., Braun IR; Data Collaboration Center, Critical Path Institute, Tucson, AZ 85718, United States., Broeren EC; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States., Byer BK; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27514, United States., Byrne AB; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Boston, MA 02140, United States., Callahan TJ; IBM Research Accelerated Materials Discovery, San Jose, CA 95120, United States., Carmody LC; Jackson Laboratory, Farmington, CT 06730, United States., Chan LE; Department of Pediatrics, University of Chicago, Chicago, IL 60637, United States., Clause AR; Department of Neurology, Washington University in St. Louis, St. Louis, MO 63130, United States., Cohen JS; Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD 21205, United States., DeLuca M; Department of Chemical Biology and Medicinal Chemistry, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, United States., Deuitch NT; Translational and Functional Genomics Branch, National Human Genome Research Institute, Bethesda, MD 20892, United States., Flowers M; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27560, United States., Fraser J; Children's National Hospital: Washington, D.C., Rare Disease Institute, Washington, DC 20010, United States., Fujiwara T; Database Center for Life Science, Research Organization of Information and Systems, Kashiwa, Chiba 277-0871, Japan., Gitau V; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States., Goldstein JL; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27510, United States., Gration D; Western Australian Register of Developmental Anomalies, King Edward Memorial Hospital, Perth, Western Australia 6008, Australia., Groza T; Agency for Science, Technology and Research (A*STAR), Bioinformatics Institute (BII), Singapore 138671, Singapore., Gyori BM; Khoury College of Computer Sciences, Northeastern University, Boston, MA 02115 02445, United States., Hankey W; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27514, United States., Hilton JA; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, CA 94305, United States., Himmelstein DS; RadOverlay, Lebanon, NH 03766, United States., Hong SS; General Internal Medicine, BIDS Section, John Hopkins University School of Medicine, Baltimore, MD 21205, United States., Hoyt CT; RWTH Aachen University, Institute of Inorganic Chemistry, Aachen, NRW 52074, Germany., Huether R; Department of Bioinformatics, Tempus AI, Chicago, IL 60654, United States., Hurwitz E; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27514, United States., Jacobsen JOB; Queen Mary University of London, William Harvey Research Institute, London EC1M 6BQ, United Kingdom., Kikuchi A; Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Miyagi 980-8574, Japan., Köhler S; Ada Health GmbH, AI, Berlin 10179, Germany., Korn DR; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27514, United States., Lagorce D; INSERM, US14, PARIS, Paris 75014, France., Laraway BJ; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, United States., Li JY; Every Cure, Tech Team, Philadelphia, PA 19104, United States., Malheiro AJ; National Library of Medicine, National Institutes of Health, National Center for Biotechnology Information, Bethesda, MD 20894, United States., McLaughlin J; EMBL-EBI, Samples, Phenotypes, and Ontologies (SPOT), Hinxton CB10 1SA, United Kingdom., Meldal BHM; Pfizer UK, Pfizer Digital, Tadworth, Surrey KT20 7NS, United Kingdom., Mohan S; Department of Pathology, Duke University Health System, Durham, NC 27705, United States., Moxon SAT; Lawrence Berkeley National Laboratory, EGSB, Berkeley, CA 94720, United States., Munoz-Torres MC; Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, United States., Nelson TH; Department of Developmental Medicine, Geisinger, Danville, PA 17822, United States., Nicholas FW; Sydney School of Veterinary Science, University of Sydney, Sydney, NSW 2006, Australia., Ochoa D; EMBL-EBI, Open Targets, Hinxton, Cambridgeshire CB10 1SD, United Kingdom., Olson D; Ontologies, Standards and Metadata, Critical Path Institute, Tucson, AZ 85715, United States., Oprea TI; Expert Systems Inc., San Diego, CA 92130, United States., Oskotsky TT; Division of Clinical Informatics and Digital Transformation, University of California San Francisco, San Francisco, CA 94143, United States., Osumi-Sutherland D; EMBL-EBI, Samples, Phenotypes and Ontologies, Hinxton, Cambridgeshire CB10 1SD, United Kingdom., Paris K; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States., Parkinson HE; EMBL-EBI, Knowledge Management Section, European Bioinformatics Institute, Hinxton CB10 1SD, United Kingdom., Pendlington ZM; EMBL-EBI, Knowledge Management Section, European Bioinformatics Institute, Hinxton CB10 1SD, United Kingdom., Peng XP; Department of Pediatrics/Genetics, Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY 10467, United States., Pizzino A; Department of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States., Plon SE; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, United States., Powell BC; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, United States., Ratliff JC; Medical and Population Genetics/Translational Genomics Group, Broad Institute of MIT and Harvard, Boston, MA 02134, United States., Rehm HL; Center for Genomic Medicine; Medical and Population Genetics, Massachusetts General Hospital; Broad Institute or MIT and Harvard, Boston, MA 02114, United States., Remennik L; CBIIT, National Cancer Institute (NCI), Bethesda, MD 20850, United States., Riggs ER; Department of Developmental Medicine, Geisinger, Danville, PA 17822, United States., Roberts S; National Organization for Rare Disorders, Information Technology, Woodbury, CT 06798, United States., Robinson PN; Charité Universitätsmedizin Berlin, Berlin Institute of Health, Berlin 10117, Germany., Ross JE; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27707, United States., Schaper K; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, United States., Schilder BM; Quantitative Biology, Cold Spring Harbor Laboratory, Cold Spring Harbor, NY 11724, United States., Schmidt JL; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, United States., Sharp EW; Every Cure, Medical Team, Philadelphia, PA 19104, United States., Similuk MN; Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, United States., Smedley D; Queen Mary University of London, William Harvey Research Institute, London EC1M 6BQ, United Kingdom., Sneddon TP; Department of Pathology and Laboratory Medicine/Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27514, United States., Sparks R; National Institutes of Health, National Institute of Allergy & Infectious Diseases, Bethesda, MD 20892, United States., Stefancsik R; EMBL-EBI, Knowledge Management Section, European Bioinformatics Institute, Hinxton CB10 1SD, United Kingdom., Stupp GS; Department of Integrative Structural and Computational Biology, Scripps Research Institute, La Jolla, CA 92037, United States., Sundar S; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27514, United States., Takatsuki T; Database Center for Life Science Joint Support-Center for Data Science Research Research Organization of Information and Systems, Kashiwa, Chiba 277-0871, Japan., Tammen I; Sydney School of Veterinary Science, The University of Sydney, Camden, NSW 2570, Australia., Tshering KC; Translational Genomics Group, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States., Unni DR; Personalized Health Informatics Group, SIB Swiss Institute of Bioinformatics, Basel 4051, Switzerland., Valasek E; Clinical Epidemiology, The Lady Davis Institute for Medical Research, Montreal, Quebec H3T 1E2, Canada., Vanderver A; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, United States., Wagner AH; Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH 43215, United States., Webb RF; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States., Welter D; Luxembourg National Data Service, LNDS, Esch-sur-Alzette 4362, Luxembourg., Yaya-Stupp D; Department of Developmental Biology and Cancer Research, The Institute for Medical Research Israel-Canada, The Hebrew University of Jerusalem, Jerusalem 9112001, Israel., Zankl A; Faculty of Medicine and Health, The University of Sydney, Sydney, NSW 2050, Australia., Zhang XA; The Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, United States., McMurry JA; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27514, United States., Chute CG; Schools of Medicine, Public Health, and Nursing, Johns Hopkins University, Baltimore, MD 21287, United States., Hamosh A; Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD 21287-4922, United States., Mungall CJ; Lawrence Berkeley National Laboratory, EGSB, Berkeley, CA 94720, United States., Haendel MA; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27514, United States.
Source: Genetics [Genetics] 2026 Apr 04; Vol. 232 (4).
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Intramural; Research Support, U.S. Gov't, Non-P.H.S.
Journal Info: Publisher: Oxford University Press Country of Publication: United States NLM ID: 0374636 Publication Model: Print Cited Medium: Internet ISSN: 1943-2631 (Electronic) Linking ISSN: 00166731 NLM ISO Abbreviation: Genetics Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1943-2631
DOI:10.1093/genetics/iyaf215