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. 2023 May 18:302:607-608.
doi: 10.3233/SHTI230216.

Diagnosis Support for Rare Diseases Using Phenotypic Profiles

Richard Noll  1 , Jannik Schaaf  1 , Michael Von Wagner  2 , Holger Storf  1
Affiliations

Diagnosis Support for Rare Diseases Using Phenotypic Profiles

Richard Noll et al. Stud Health Technol Inform. .

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 diseases. HPO was used to map syndromes and phenotypic profiles. The system architecture described is planned to be implemented in a clinical decision support system for unclear diseases.

Keywords: Clinical Decision Support; Rare Disease; Syndrome.

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