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Automatic generation of consistency constraints for an OWL representation of the FMA

Ontologies are explicit and machine-processable representations of some domain knowledge. As anatomy is a fundamental discipline to the medical domain [1], an ontology of anatomy would play a pivotal role. Nowadays, the Fundamental Model of Anatomy (FMA) is the reference ontology for canonical human anatomy. It contains over 75.000 classes and 2.5 millions relations [2]. From an application perspective, ontologies contribute both to semantic interoperability of data sources [2] and to reasoning on the data [3]. In order to support these interoperability and reasoning requirements, the OWL family of languages seems to be currently the best solution. However, the FMA is represented using the frames formalism. For the most part, generating an OWL version of the FMA is straightforward. However, previous works showed that some features are implicit or cannot be represented in frames but are crucial for leveraging the specificites of OWL [4, 5, 6, 7]. It would be possible to address this point by manual processing, but the task is likely to be cumbersome, error-prone, and would increase the workload of maintaining the original FMA. Moreover, the organization of the FMA follows a strict and principled approach that could be exploited. This article focuses on the automatic generation of OWL-specific constraints for the conversion of the FMA into OWL. Particularly, we report on the appropriate generation of subsumption relations, of disjunction constraints among sibling classes, of necessary and sufficient definitions for coverage and of existential and closure constraints for partonomy relations. We restrict our study to the subclasses of Physical anatomical entity and to the relations of subsumption and composition. We show that within this domain, (1) the automatic generation of the constraints is possible, and (2) that the process can identify some situations where the ontology would be logically consistent but in contradiction with reality.