Christopher J Mungall; Carlo Torniai; Georgios V Gkoutos; Suzanna E Lewis; Melissa A Haendel

“ Abstract We present Uberon, an integrated cross-species ontology consisting of over 6,500 classes representing a variety of anatomical entities, organized according to traditional anatomical classification criteria. The ontology represents structures in a species-neutral way and includes extensive associations to existing species-centric anatomical ontologies, allowing integration of model organism and human data. Uberon provides a necessary bridge between anatomical structures in different taxa for cross-species inference. ”

“ AOs have proven useful for querying individual databases, but integrative queries spanning multiple databases or multiple species is problematic because each database uses a different ontology constructed according to different principles and requirements. There is a lack of inter-ontology connections between anatomy ontologies, and a lack of connections from anatomy to other domains such as phenotype. This results in a parcellation of data into isolated silos, as illustrated in Figure 1. ”

“ Users wishing to query over multiple datasets will have to make multiple queries and integrate the results. For example, a query for mouse and human genes expressed in the lung at any stage of development or in abnormal tissues may require four or more queries in different places. ”