Representing Disease Courses: An Application of the Neurological Disease Ontology to Multiple Sclerosis Typology

The Neurological Disease Ontology (ND) is being developed to provide a comprehensive framework for the representation of neurological diseases (Diehl et al., 2013). ND utilizes the model established by the Ontology for General Medical Science (OGMS) for the representation of entities in medicine and disease (Scheuermann et al., 2009). The goal of ND is to include information for each disease concerning its molecular, genetic, and environmental origins, the processes involved in its etiology and realization, as well as its clinical presentation including signs and symptoms. ND builds upon the Neuroscience Information Framework Standard ontology module, NIF_Dysfunction, which represents diseases affecting the nervous system (Bug et al., 2008). Multiple sclerosis (MS) is an autoimmune demyelinating disease of the central nervous system. MS presents clinically through varied neurological symptoms including loss of motor control and balance, as well as visual and cognitive impairments (NMSS, 2013). A hallmark of MS is its manifestation through one or more patterns of neurological impairment: relapsing remitting (RRMS), secondary progressive (SPMS), or primary progressive (PPMS). Diagnoses of these clinical variants are based primarily on the frequency and intensity of episodes of neurological worsening. Disability in MS is assessed using the Kurtzke Expanded Disability Status Scale (EDSS).