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J Biomed Semantics. 2015 Apr 17;6:21. doi: 10.1186/s13326-015-0008-2. eCollection 2015.

Capturing domain knowledge from multiple sources: the rare bone disorders use case.

Author information

School of ITEE, The University of Queensland, St Lucia, Australia.
Stanford Center for Biomedical Informatics Research, Stanford University, Stanford, USA.
Institut für Medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin, Berlin, Germany.
Children's Hospital, Westmead, The University of Sydney, Sydney, New South Wales Australia.



Lately, ontologies have become a fundamental building block in the process of formalising and storing complex biomedical information. The community-driven ontology curation process, however, ignores the possibility of multiple communities building, in parallel, conceptualisations of the same domain, and thus providing slightly different perspectives on the same knowledge. The individual nature of this effort leads to the need of a mechanism to enable us to create an overarching and comprehensive overview of the different perspectives on the domain knowledge.


We introduce an approach that enables the loose integration of knowledge emerging from diverse sources under a single coherent interoperable resource. To accurately track the original knowledge statements, we record the provenance at very granular levels. We exemplify the approach in the rare bone disorders domain by proposing the Rare Bone Disorders Ontology (RBDO). Using RBDO, researchers are able to answer queries, such as: "What phenotypes describe a particular disorder and are common to all sources?" or to understand similarities between disorders based on divergent groupings (classifications) provided by the underlying sources.


RBDO is available at In order to support lightweight query and integration, the knowledge captured by RBDO has also been made available as a SPARQL Endpoint at

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