Article

RD-Embed: Unified representations of rare-disease knowledge from clinical records

2026-04-04

Abstract excerpt

<h4>ABSTRACT</h4> Rare diseases often present with incomplete, evolving symptoms and signs scattered across clinical notes and coded records, making diagnosis and gene discovery difficult even when genomic data are available. Existing approaches either depend on curated phenotype profiles or use general biomedical language models that are not aligned to rare-disease knowledge, limiting performance in early or amb...

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Literature Corpus work: a797d35a-6b41-5897-b2b0-df6f0614c378
DOI: 10.64898/2026.04.02.26350083

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