An Ontology for Human Craniofacial Development

In this study we develop and extend the human development content in the Foundational Model of Anatomy Ontology (FMA)1, with emphasis on the craniofacial region. This content is a requirement to support the Ontology of Craniofacial Development and Malformation (OCDM). The OCDM aims to serve as a unifying framework for organizing and integrating disparate craniofacial data generated by the different members of the FaceBase Consortium. Here we elaborate on the embryological development of anatomical struc-tures that are related to our use case for this project, the cleft lip and/or palate (CL/P). Craniofacial development consists of complex embryological events that are influenced and controlled by both genetic and environmental factors. Any disturbance at any time in the development can result in struc-tural malformations, such as facial clefts. In this study we selected cleft lip and/or cleft palate (CL/P), the most common type of facial cleft, as our primary use case. We augmented the craniofacial content of the FMA with extensive spatio-structural and temporal representations of anatomical entities and relations re-lating to structures involved in CL/P (e.g. lips, alveolar ridge, incisor teeth and palate). We extended the description of entities and relations to granularity levels that would allow us to account for where and when malformation can occur during normal development. Where applicable, we leveraged existing ontologies, such as HPO and PATO, to enhance the content development. The main objective of this project is to provide support for the FaceBase Consortiu