Figure 4. Visualizing patient similarities to known diseases and model organisms.
An Undiagnosed Disease Program patient's phenotypes are on the left and match against the best genetic models in mice. The darker the square, the more in common the phenotypes are between the patient and the matched profile. Mouse models are shown here for comparison purposes. Note that a mouse mutant in the ortholog of STIM1 has 3 matching phenotypes with the patient's profile and when combined with exome analysis assisted the diagnosis of this patient. MME implementations of Phenogrid would enable comparison of input patient profiles against other patients accessible through MME protocols as well as known diseases and models.