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Ofacial study neighborhood for describing human improvement and anatomy, and for relating these descriptions to relevant counterparts in model organisms which include mice. One example is, whereas craniofacial study needs a comprehensive representation of head anatomical entities and their relations, an ontology such as the mouse anatomy ontology [Hayamizu et al., 2005] represents only two forms of relation (part_of and is_a), with limited depth for craniofacial structures. Similarly, whereas the mapping ontology UBERON [Mungall et al., 2012] was deliberately developed to become homology-neutral, craniofacial researchers frequently have to have to link orthologous genes (i.e. inherited from a widespread ancestor, and distinguished from 1 another through speciation events) across species. It can be for these reasons that the NIDCR sponsored the creation from the OCDM. The objective of this article will be to introduce the OCDM for the craniofacial investigation neighborhood, to describe its current status and future plans, and to provide examples of how the OCDM is going to be of use not merely to FaceBase but also to geneticists, dysmorphologists, and craniofacial investigators. We start by describing our general strategy, then deliver precise particulars on our driving use circumstances, the organizational framework and content entered to-date, and prototype examples of the prospective use of your OCDM.NIH-PA Author Manuscript NIH-PA Author Manuscript NIH-PA Author ManuscriptOverall approachWhen complete, the OCDM will include things like standard and abnormal craniofacial structure and function, developmental anatomy and processes, syndromes, and other conditions relevant to craniofacial analysis and clinical practice. It will contain links to corresponding model organism knowledge sources, as well as relevant genomic information sources which include the gene ontology [Ashburner et al., 2000]. To provide a framework for this significant and diverse quantity of facts we organize the OCDM primarily about human adult and developmental anatomy, as offered by our Foundational Model of Anatomy (FMA) [Rosse and Mejino, 2003]. The FMA is usually a symbolic representation from the phenotypic structure of your body ranging from macroscopic anatomy to molecules, which is by design limited to canonical structure. The FMA consists of a degree of detail that is definitely not found in anatomy textbooks like Gray's Anatomy [Gray, 1918]. For instance, as shown in Figure 1, to be able to establish ontological relationships among the adult lip, a cleft lip, embryologic improvement with the lip, and gene expression within the lipAm J Med Genet C Semin Med Genet. Author manuscript; obtainable in PMC 2014 June 02.Brinkley et al.Pageregion, the FMA includes definitions for many subcomponents and bounds on the lip which might be unnamed in normal texts.NIH-PA Author Manuscript NIH-PA Author Manuscript NIH-PA Author ManuscriptThe FMA currently comprises more than 93,000 classes (e.g. "Head", "Mouth") represented by about 170,000 terms including preferred names, synonyms, eponyms and non-English equivalents, at the same time as over two.three million relations between classes (is_a, part_of, and so on). The FMA is at the moment the biggest and most comprehensive human anatomy ontology, and is becoming broadly accepted as the canonical anatomy reference ontology, with many of the main ontologies and controlled terminologies, which include SNOMED-CT [Spackman and Campbell, 1998], RadLex [Kundu et al., 2009], and Terminologia Anatomica [Whitmore, 1999] aligning to or incorporating the FMA because the anatomy axis of their.