Figure Legends

Figure 1: Screenshot of the My Matches table in PhenomeCentral.PhenomeCentral users can use this table to keep track of the matches found for all of their cases in one place. Here, they can perform advanced filtering and sorting, compare genotypes and phenotypes between matched cases, write individual notes, initiate contact with other PhenomeCentral or MME users, and access the communication history associated with a specific match.
Figure 2: Total number of cases deposited in PhenomeCentral.Since its launch in February 2014, and beginning with only a handful of cases contributed by the Canadian Care for Rare Consortium (http://care4rare.ca), PhenomeCentral has seen steady growth and has now surpassed 12,000 patient profiles available for matching.
Figure 3: Overview of the HPO phenotypes documented in PhenomeCentral cases (N = 12292 cases). a) Frequency of general categories of HPO terms; abnormalities in the nervous system, abnormalities in the head or neck, and abnormalities in the skeletal system are most prevalent. b) Frequency of specific HPO terms; global developmental delay, seizures, and short stature are most prevalent.