Individual skill
tooluniverse-rare-disease-diagnosis
Rare disease differential diagnosis from patient phenotype — HPO term matching to candidate diseases (Orphanet, OMIM), gene panel prioritization, ACMG variant interpretation, and structure-based variant analysis. Use for diagnostic odyssey assistance, phenotype-to-disease ranking, and genetic-counseling differential generation.
plugins/tooluniverse/skills/tooluniverse-rare-disease-diagnosis/SKILL.md
Source commit 5598a9fc97e32964fe9b703818e7d0747142f179
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- Last checked
- Nov 9, 2026
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- Repository last updated
- Nov 8, 2026
- License
- Apache-2.0
Observed agent integration: No specific integration evidence. Standard SKILL.md installation does not imply verified compatibility.
- agents Repository topic
- reasoning-agent Repository topic
- reasoning-language-models Repository topic
- tool-use Repository topic
- ai-agents Repository topic
- ai-scientists Repository topic
- automated-science Repository topic
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- engineering Derived category
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CHECKLIST.mddoc · 6,308 bytesDIAGNOSTIC_WORKFLOW.mddoc · 23,675 bytesEXAMPLES.mddoc · 13,697 bytesREPORT_TEMPLATE.mddoc · 11,129 bytesSKILL.mdcore · 8,871 bytesSKILL.mdcore · 8,871 bytesTOOLS_REFERENCE.mddoc · 29,133 bytesscripts/clinical_patterns.pyruns · 36,160 bytes
Read excerpt
# 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** - 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. **English-first queries** - Always use English terms in tool calls
## LOOK UP, DON'T GUESS
When uncertain about any scientific fact, SEARCH databases first rather than reasoning from memory.
