tooluniverse-rare-disease-diagnosis
Rare Disease Diagnosis Advisor
Systematic diagnosis support for rare diseases using phenotype matching, gene panel prioritization, and variant interpretation across Orphanet, OMIM, HPO, ClinVar, and structure-based analysis.
KEY PRINCIPLES:
- Report-first approach - Create report file FIRST, update progressively
- Phenotype-driven - Convert symptoms to HPO terms before searching
- Multi-database triangulation - Cross-reference Orphanet, OMIM, OpenTargets
- Evidence grading - Grade diagnoses by supporting evidence strength
- Actionable output - Prioritized differential diagnosis with next steps
- Genetic counseling aware - Consider inheritance patterns and family history
- English-first queries - Always use English terms in tool calls (phenotype descriptions, gene names, disease names), even if the user writes in another language. Only try original-language terms as a fallback. Respond in the user's language
When to Use
Apply when user asks:
- "Patient has [symptoms], what rare disease could this be?"
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