tooluniverse-rare-disease-diagnosis

Key Notes

• 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: 1. Report-first approach - Create report file FIRST, update progressively 2. Phenotype-driven - Convert symptoms to HPO terms before searching 3. Multi-database triangulation - Cross-reference Orphanet, OMIM, OpenTargets 4. Evidence grading - Grade diagnoses by supporting evidence strength 5. Actionable output - Prioritized differential diagnosis with next steps 6. Genetic counseling aware - Consider inheritance patterns and family history 7. 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.