Human development domain of the ontology of craniofacial development and malformation

Jose Leonardo Villaraza Mejino, Ravensara S. Travillian, Timothy C. Cox, Linda G Shapiro, James F Brinkley

Research output: Chapter in Book/Report/Conference proceedingConference PaperResearch

2 Citations (Scopus)


In this paper we describe an ontological scheme for representing anatomical entities undergoing morphological transformation and changes in phenotype during prenatal development. This is a proposed component of the Anatomical Transformation Abstraction (ATA) of the Foundational Model of Anatomy (FMA) Ontology that was created to provide an ontological framework for capturing knowledge about human development from the zygote to postnatal life. It is designed to initially describe the structural properties of the anatomical entities that participate in human development and then enhance their description with developmental properties, such as temporal attributes and developmental processes. This approach facilitates the correlation and integration of the classical but static representation of embryology with the evolving novel concepts of developmental biology, which primarily deals with the experimental data on the mechanisms of embryogenesis and organogenesis. This is important for describing and understanding the underlying processes involved in structural malformations. In this study we focused on the development of the lips and the palate in conjunction with our work on the pathogenesis and classification of cleft lip and palate (CL/P) in the FaceBase program. Our aim here is to create the Craniofacial Human Development Ontology (CHDO) to support the Ontology of Craniofacial Development and Malformation (OCDM), which provides the infrastructure for integrating multiple and disparate craniofacial data generated by FaceBase researchers. Copyright

Original languageEnglish
Title of host publicationProceedings of the 4th International Conference on Biomedical Ontology 2013
EditorsMichel Dumontier, Robert Hoehndorf, Christopher J. O. Baker
Place of PublicationAachen Germany
PublisherRheinisch-Westfaelische Technische Hochschule Aachen
Number of pages4
Publication statusPublished - 2013
EventInternational Conference on Biomedical Ontology 2013 - Montreal, Canada
Duration: 7 Jul 201312 Jul 2013
Conference number: 4


ConferenceInternational Conference on Biomedical Ontology 2013
Abbreviated titleICBO 2013
Internet address

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