Figure 4.

PubCaseFinder at a Glance and Integration of PubCaseFinder with IRUD Exchange and PhenomeCentral

Once a user types an affected individual’s phenotype in the search box, PubCaseFinder displays candidate HPO terms. This enables rapid entry of HPO terms because users select appropriate HPO terms from the list (A). The affected individual is then compared with all rare diseases in Orphanet on the basis of phenotypic similarity, and the ranked list of rare diseases is shown (B). The higher the phenotypic similarity, the higher the displayed probability as a candidate disease. Users can also obtain a ranked list of published case reports in the same manner (C). The context in which a DPA appears is useful for confirming detailed contextual information on the presence of DPAs (D). This figure also shows the integration of PubCaseFinder with IRUD Exchange (a customized system of Patient Archive) (E) and PhenomeCentral (F) via the PubCaseFinder application programming interface (API). The PubCaseFinder API is also developed as the Matchmaker Exchange (MME) API.