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Versal classification system that captures all variant presentations of CL/P. Given the existence of so many approaches, every of which has merit in its personal appropriate, our goal is not to invent yet a different classification scheme but rather to create a unifying framework that should accommodate and reconcile existing classification schemes. To make such a framework calls for that we explicitly represent the assumptions underlying every classification scheme when it comes to the basic anatomy, pathology and developmental processes. To make this framework we initially consulted quite a few current ontologies or controlled vocabularies relating to malformations, namely: SNOMED-CT [Spackman and Campbell, 1998] Human Illness Ontology (HDO) [Du et al., 2009], Human Phenotype Ontology (HPO) [Robinson and Mundlos, 2010], ICD-10CM [NCHS, 2013], and Components of Morphology [Allanson et al., 2009]. Generally, most sources don't consist of representation with the underlying fundamental science inside the phenotypic descriptions. One example is, HPO classifies "cleft upper lip" as an abnormality of your upper lip but will not clearly specify whether or not the term pertains for the pathological structure itself or its phenotypic abnormality. It really is important to distinguish involving the two mainly because the kinds of standard facts that are associated with every single are drastically diverse from 1 a further. That's, pathological structures could possibly be described by morphometric X-396 hydrochloride Data Sheet measurements (e.g. upper lip height, philtrum width) whereas phenotypic abnormalities may very well be described by processual properties (e.g. transforms, derives, fusion, or partial fusion). The framework we've made for that reason consists of creating separate sub-ontologies for pathological structures and phenotypic abnormalities, using canonical anatomy because the basisNIH-PA Author Manuscript NIH-PA Author Manuscript NIH-PA Author ManuscriptAm J Med Genet C Semin Med Genet. Author manuscript; out there in PMC 2014 June 02.Brinkley et al.Pagefor classifying each types of entities, and ontology best practices to ensure consistency with higher level classification systems [Rosse et al., 2005; Grenon et al., 2004].NIH-PA Author Manuscript NIH-PA Author Manuscript NIH-PA Author ManuscriptFigure 6 illustrates this dual representation for cleft upper lip. Since we regard cleft upper lip as a pathological structure (as opposed to a phenotypic abnormality) we say that Cleft upper lip is actually a Pathological structure. We say that Cleft upper lip has_condition Clefting of upper lip, that is a Phenotypic abnormality. We then associate these entities with their corresponding canonical structures inside the CHO. As a result, Cleft upper lip is actually a variation_of Upper lip, and Clefting of upper lip is located_in the Upper lip, wherein a gap exists among particular regions with the upper lip. We also associate morphometric measurements and descriptors with canonical structures. These measurements, which come in the AEO, consist of such properties as "cleft" and length ("philtrum length"), which can be the basis for classifying an Upper lip as a Pathological structure. Similarly, we program to associate phenotypic abnormalities like Clefting of upper lip, with pathological processes for instance Partial-fusion or Non-fusion of precursor developmental structures. By associating these kinds of entities with each other and with canonical developmental structures by means of specific relations whose basic biological meaning is well-defined, we can represent qualitative know-how of developmental biol.