IP03: Multi-species Ontologies of the Craniofacial Musculoskeletal System

TitleIP03: Multi-species Ontologies of the Craniofacial Musculoskeletal System
Publication TypeConference Paper
Year of Publication2016
AuthorsMejino JL, Brinkley J, Cox T, Detwiler L
Conference NameInternational Conference on Biomedical Ontology and BioCreative (ICBO BioCreative 2016)
Date Published11/30/16
PublisherCEUR-ws.org Volume 1747
Other NumbersVol-1747|urn:nbn:de:0074-1747-1

We created the Ontology of Craniofacial Development and Malformation (OCDM) [1] to provide a unifying framework for organizing and integrating craniofacial data ranging from genes to clinical phenotypes from multi-species. Within this framework we focused on spatio-structural representation of anatomical entities related to craniofacial development and malformation, such as craniosynostosis and midface hypoplasia. Animal models are used to support human studies and so we built multi-species ontologies that would allow for cross-species correlation of anatomical information. For this purpose we first developed and enhanced the craniofacial component of the human musculoskeletal system in the Foundational Model of Anatomy Ontology (FMA)[2], and then imported this component, which we call the Craniofacial Human Ontology (CHO), into the OCDM. The CHO was then used as a template to create the anatomy for the mouse, the Craniofacial Mouse Ontology (CMO) as well as for the zebrafish, the Craniofacial Zebrafish Ontology (CZO).