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Article

Diagnosis Support for Rare Diseases Using Phenotypic Profiles.

Studies in health technology and informatics - 18 May 2023

Noll Richard, Schaaf Jannik, Von Wagner Michael, Storf Holger

Abstract excerpt

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.

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PMID: 37203759
DOI: 10.3233/SHTI230216

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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