Extended Data Fig. 6: Screenshot of the GestaltMatcher web service.
From: GestaltMatcher facilitates rare disease matching using facial phenotype descriptors
Users can upload a patient photo to match against patients in the selected categories and can also visualize the clustering of patients by t-SNE. Access can be requested from www.gestaltmatcher.org. If the category DeepGestalt is selected, only cases with one of the frequent 299 diagnoses that DeepGestalt supports populate the gallery. If category Ultra-rare is chosen, the gallery is populated by cases with one of the 816 diagnoses not supported by DeepGestalt. The category of Undiagnosed Patients is suitable for a research setting if no match with a known disorder could be made (see, for example, PSMC3 in the online demo).
