title: Multi-species Ontologies of the Craniofacial Musculoskeletal System.
abstract: 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).
authors.affiliation: Department of Biological Structure, University of Washington.
authors.forename: Jose L V
authors.initials: JL
authors.lastname: Mejino
authors.affiliation: Department of Biological Structure, University of Washington.
authors.forename: Landon T
authors.initials: LT
authors.lastname: Detwiler
authors.affiliation: Division of Craniofacial Medicine, Department of Pediatrics, University of Washington; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA, USA.
authors.forename: Timothy C
authors.initials: TC
authors.lastname: Cox
authors.affiliation: Department of Biological Structure, University of Washington; Department of Biomedical Informatics and Medical Education, University of Washington.
authors.forename: James F
authors.initials: JF
authors.lastname: Brinkley
keywords: Craniofacial Congenital Abnormalities; FaceBase Consortium; Foundational Model of Anatomy; Ontology of Craniofacial Development and Malformation