Diagnosis Support for Rare Diseases Using Phenotypic Profiles.
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DOI: 10.3233/shti230216
Abstract: The common occurrence of characteristic symptoms can be used to infer diagnoses. The aim of this study is to show how syndrome similarity analysis using given phenotypic profiles can help in the diagnosis of rare… read more here.
Keywords: support rare; rare diseases; phenotypic profiles; diagnosis support ... See more keywords