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TO
tooluniverse-rare-disease-diagnosis
维护者 FreedomIntelligence · 最近更新 2026年4月1日
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.
原始来源
FreedomIntelligence/OpenClaw-Medical-Skills
https://github.com/FreedomIntelligence/OpenClaw-Medical-Skills/tree/main/skills/tooluniverse-rare-disease-diagnosis
- 维护者
- FreedomIntelligence
- 许可
- MIT
- 最近更新
- 2026年4月1日
技能摘要
来自 SKILL.md 的关键信息
核心说明
- Systematic diagnosis support ，用于 rare diseases ，使用 phenotype matching，gene panel prioritization，、 variant interpretation across Orphanet，OMIM，HPO，ClinVar，、 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 ，支持 next steps 6. Genetic counseling aware - Consider inheritance patterns 、 family history 7. English-first queries - Always use English terms in tool calls (phenotype descriptions，gene names，disease names)，even if user writes in another language. Only try original-language terms as fallback. Respond in user's language。
原始文档
SKILL.md 摘录
When to Use
Apply when user asks:
- "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]"
1. Report-First Approach (MANDATORY)
-
Create the report file FIRST:
- File name:
[PATIENT_ID]_rare_disease_report.md - Initialize with all section headers
- Add placeholder text:
[Researching...]
- File name:
-
Progressively update as you gather data
-
Output separate data files:
[PATIENT_ID]_gene_panel.csv- Prioritized genes for testing[PATIENT_ID]_variant_interpretation.csv- If variants provided
2. Citation Requirements (MANDATORY)
Every finding MUST include source:
适用场景
- 适合在clinician asks about rare disease diagnosis，unexplained phenotypes，或 genetic testing interpretation时使用。
不适用场景
- Do not rely on this catalog entry alone ，用于 installation 或 maintenance details。
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