Decomposing phenotype descriptions for the human skeletal phenome

Biomed Inform Insights. 2013;6:1-14. doi: 10.4137/BII.S10729. Epub 2013 Feb 4.


Over the course of the last few years there has been a significant amount of research performed on ontology-based formalization of phenotype descriptions. The intrinsic value and knowledge captured within such descriptions can only be expressed by taking advantage of their inner structure that implicitly combines qualities and anatomical entities. We present a meta-model (the Phenotype Fragment Ontology) and a processing pipeline that enable together the automatic decomposition and conceptualization of phenotype descriptions for the human skeletal phenome. We use this approach to showcase the usefulness of the generic concept of phenotype decomposition by performing an experimental study on all skeletal phenotype concepts defined in the Human Phenotype Ontology.

Keywords: human skeletal phenome; ontologies; phenotype decomposition; phenotype segmentation.