domains / families / science / tooluniverse-rare-disease-diagnosis

tooluniverse-rare-disease-diagnosis

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Provide differential diagnosis for patients with suspected rare diseases based on phenotype and genetic data. Matches symptoms to HPO terms, identifies candidate diseases from Orphanet/OMIM, prioritizes genes for testing, interprets variants of uncertain significance. Use when clinician asks about rare disease diagnosis, unexplained phenotypes, or genetic testing interpretation.

When to use

• "Patient has [symptoms], what rare disease could this be?"
• "Unexplained developmental delay with [features]"
• "WES found VUS in [gene], is this pathogenic?"
• "What genes should we test for [phenotype]?"
• "Differential diagnosis for [rare symptom combination]"

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