Mondo Disease Ontology Highlights from 2021

By Sabrina Toro and Nicole Vasilevsky

Greetings from the Mondo team! Another year of working remotely, forgoing our hopes that we’d be able to gather together in person this year. But we’ve persevered and we have lots of highlights to share with you from the past year.

New team members, new institution, even stronger team

Joe Flack from Chris Chute’s group at Johns Hopkins University joined the Mondo team as an ontology engineer this fall. Joe likes to work alongside his four cats on our quality control pipelines.

Last year we announced our new official collaboration with Ada Hamosh from the Online Mendelian Inheritance of Man (OMIM) and her team at Johns Hopkins University, as part of the Phenomics First project. This collaboration has led to countless improvements in Mondo, and her expertise has greatly assisted us in better representation of Mendelian diseases and mappings to external ontologies.

This year again, we have received the support and contributions from many experts, clinicians, researchers, etc. Your contributions are the key to Mondo success, and we are grateful for them.

Mondo team members

In June, the Translational and Integrative Sciences Lab (TISLab), directed by Melissa Haendel and including many members of the Mondo and Monarch Initiative team, moved to the University of Colorado, Anschutz Medical Campus (CU). We are excited about joining the brand new Center for Health and Artificial Intelligence (CHAI) where there is great potential for collaboration. This move required a lot of our attention and time, but a lot of progress (and exciting improvements) was made on the Mondo project.

Mondo Development Highlights

Mondo accomplishments

A new version of Mondo is released every month, at the beginning of the month. Our latest release, on December 01 [link], was our 65th!

Improved obsoletion workflow

Improved documentation of changes

Clinically oriented view of Mondo

Axiomatization of chromosomal anomalies

Restructuring of Peroxisomal Biogenesis disorders

Addition of new Leukemia terms for Open Targets

Disease Nomenclature

Workshops

See you next year

How can I contribute to Mondo?

Community calls: There are Mondo curator calls every Thursday at 10 am PT/1 pm ET, and all are welcome to join to listen in or bring up any issues. Contact Nicole Vasilevsky(nicole@tislab.org) for an invitation.

Resources

Mondo GitHub: https://github.com/monarch-initiative/mondo

Mondo Discussion Board: https://github.com/monarch-initiative/mondo/discussions

Mondo users mailing list: mondo-users-subscribe@googlegroups.com (subscribe to the mailing list to get updates about releases, obsoletion candidates and pet pictures)

Generic slide deck on the Mondo Disease Ontology: Generic_Mondo_Slides. This is available for reuse with attribution.

Contact: Nicole Vasilevsky, nicole@tislab.org or Sabrina Toro, sabrina@tislab.org

Acknowledgements

Funding

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Semantically curating genotype-phenotype knowledge. Visit us at https://monarchinitiative.org/ #OpenScience #Collaborative #Data