The discovery of disease-causing mutations typically requires confirmation of 
the variant or gene in multiple unrelated individuals, and a large number of 
rare genetic diseases remain unsolved due to difficulty identifying second 
families. To enable the secure sharing of case records by clinicians and rare 
disease scientists, we have developed the PhenomeCentral portal 
(https://phenomecentral.org). Each record includes a phenotypic description and 
relevant genetic information (exome or candidate genes). PhenomeCentral 
identifies similar patients in the database based on semantic similarity between 
clinical features, automatically prioritized genes from whole-exome data, and 
candidate genes entered by the users, enabling both hypothesis-free and 
hypothesis-driven matchmaking. Users can then contact other submitters to follow 
up on promising matches. PhenomeCentral incorporates data for over 1,000 
patients with rare genetic diseases, contributed by the FORGE and Care4Rare 
Canada projects, the US NIH Undiagnosed Diseases Program, the EU Neuromics and 
ANDDIrare projects, as well as numerous independent clinicians and scientists. 
Though the majority of these records have associated exome data, most lack a 
molecular diagnosis. PhenomeCentral has already been used to identify causative 
mutations for several patients, and its ability to find matching patients and 
diagnose these diseases will grow with each additional patient that is entered.