Mucopolysaccharidosis type II detection by Naïve Bayes Classifier: An example of patient classification for a rare disease using electronic medical records from the Canadian Primary Care Sentinel Surveillance Network

Identifying patients with rare diseases associated with common symptoms is challenging. Hunter syndrome, or Mucopolysaccharidosis type II is a progressive rare disease caused by a deficiency in the activity of the lysosomal enzyme, iduronate 2-sulphatase. It is inherited in an X-linked manner resulting in males being significantly affected. Expression in females varies with the majority being unaffected although symptoms may emerge over time. …