GestaltMatcher

[1][2] As of March 2023, GestaltMatcher DataBase (GMDB) contained approximately 10,000 case reports with a molecular diagnosis and clinical features annotated with HPO terminology.

GestaltMatcher allows users to find and publish case reports, including medical images, if that option is chosen in the dynamic consent module.

In a prospective three year multi center study, GestaltMatcher showed clinical utility as an artificial expert opinion in a multidisciplinary team.

[4] The GestaltMatcher project started in April 2021 during the revision of the manuscript from Hsieh, et al.[5] with funding from University of Bonn and the German Research Foundation (DFG).

In February 2023, at the 14th ICHG meeting in Cape Town, Prof. Shahida Moosa (Stellenbosch University) reported the 10,000 case, which is a patient from South Africa with Mabry syndrome.

GestaltMatcher is a blend word of Gestalt and Match with a camel case M. Gestalt is a professional term in dysmorphology for a recognizable pattern and match is a person resembling another person in some respect. Since match is also a polyseme for a slender piece of wood with a flammable tip, this was used for the illustration of algorithm GestaltMatcher. The two matches with blue tips indicate the individuals affected by a shared rare disorder that need to be found. The AI can support with that task by computing the similarity between portraits.