Published December 9, 2025
| Version v3
Publication
Open
Epilepsy Disease Classification: A community effort to enhance the Mondo Disease Ontology
Authors/Creators
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Vasilevsky, Nicole1
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Gehrke, Sarah
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Mullen, Kathleen2
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Barua, Subit
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Birz, Suzi
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Cohen, Ellen
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Coughlin II, Curtis3
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Dixon-Salazar, Tracy
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Farrow, Bailey4
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French, Jacqueline5
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Grabenstatter, Heidi6
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Harris, Nomi7
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Hartley, Emily8
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Ivaniuk, Alina
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Korn, Daniel
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Lal, Dennis
- Li, Mei
- Marsh, Stephanie
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McMurry, Julie
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Olson, Daniel
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Otte, Kaitlyn
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Shwetar, Yousif9
- Sid, Eric
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Sofocleous, Christalena10, 11
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Sundar, Shilpa
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Vogel-Farley, Vanessa
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Watkins, Michael
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Haendel, Melissa12
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Mungall, Christopher7
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Toro, Sabrina
- 1. Critcal Path Institute
- 2. Littleton Equine Medical Center
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3.
University of Colorado System
- 4. Children's Hospital of Philadelphia
- 5. NYU School of Medicine
- 6. International Foundation for CDKL5 Research
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7.
Lawrence Berkeley National Laboratory
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8.
Critical Path Institute
- 9. Translational Integrative Sciences Lab
- 10. Research University Institute For the Study of Genetic and Malignant Diseases of Childhood
- 11. National &Kapodistrian University of Athens , School of Medicine
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12.
University of North Carolina at Chapel Hill
Description
Workshop report from Mondo Epilepsy Workshop in 2024/2025. More details available here: https://mondo.monarchinitiative.org/pages/workshop/#Oct-2024
Files
Mondo Epilepsy Workshop 2024_2025 Slides.pdf
Files
(8.9 MB)
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Additional details
Funding
- National Human Genome Research Institute
- phenomics-first resource for interpretation of variants 5RM1HG010860
- United States Food and Drug Administration
Software
- Repository URL
- https://github.com/monarch-initiative/mondo