Multi-species ontologies of the craniofacial musculoskeletal system

Jose Leonardo Villaraza Mejino, Landon T. Detwiler, Timothy C. Cox, James F Brinkley

Research output: Contribution to conferencePoster


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).

Original languageEnglish
Number of pages2
Publication statusPublished - 2016
Externally publishedYes
EventInternational Conference on Biological Ontology and BioCreative 2016 - Oregon State University, Corvallis, United States of America
Duration: 1 Aug 20164 Aug 2016
Conference number: 7


ConferenceInternational Conference on Biological Ontology and BioCreative 2016
Abbreviated titleICBO-BioCreative 2016
Country/TerritoryUnited States of America
Internet address


  • Craniofacial congenital abnormalities
  • FaceBase Consortium
  • Foundational model of anatomy
  • Ontology of craniofacial development and malformation

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