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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.
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.
Mondo, Ontology, Chromosomal disorder, Chromosome anomaly, Disease, Monochrom
Mondo, Ontology, Chromosomal disorder, Chromosome anomaly, Disease, Monochrom
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