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rare-disease-diagnosis

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ToolUniverse workflow — Rare Disease Diagnosis

skills/rare-disease-diagnosis/SKILL.md

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---
name: tooluniverse-rare-disease-diagnosis
description: 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.
---

# 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**:
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
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