Published June 3, 2022 | Version v1
Report Open

Axiomatization and refactoring of the 'chromosomal disorder' branch of Mondo.

Creators

  • 1. University of Colorado Anschutz Medical School
  • 2. Semanticly
  • 3. Jackson Laboratory
  • 4. Lawrence Berkeley National Laboratory

Description

The Chromosomal Disorder branch of the Mondo Disease Ontology was refactored. This included axiomatization using the Monochrom ontology to refer to the chromosome or chromosomal region affected in the disorder. This report documents the concept and modeling decisions.  

Notes

Monarch is supported generously by a NIH Office of the Director Grant #5R24OD011883 and the Phenomics First Resource, NIH-NHGRI # 1 RM1 HG010860–01, a Center of Excellence in Genomic Science.

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Mondo_ChromosomalDisorder_2022.pdf

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