Phenotype ontologies for mouse and man: bridging the semantic gap.

Document Type


Publication Date



Disease, Disease-Models-Animal, Humans, Mice, Phenotype, Semantics, Species-Specificity

JAX Source

Dis Model Mech 2010 May-Jun; 3(5-6):281-9.


A major challenge of the post-genomic era is coding phenotype data from humans and model organisms such as the mouse, to permit the meaningful translation of phenotype descriptions between species. This ability is essential if we are to facilitate phenotype-driven gene function discovery and empower comparative pathobiology. Here, we review the current state of the art for phenotype and disease description in mice and humans, and discuss ways in which the semantic gap between coding systems might be bridged to facilitate the discovery and exploitation of new mouse models of human diseases.