The Bone Dysplasia Ontology. Generic overview of the Bone Dysplasia ontology structure. The high level boxes represent the three pillars of the domain, i.e., bone dysplasias, phenotype and genotype information. The dotted boxes in the Phenotype information pillar denote relationships-based dependencies on particular concepts from those ontologies and not subsumption.
Groza et al. BMC Bioinformatics 2012 13:50 doi:10.1186/1471-2105-13-50