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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.

76

Quality

96%

Does it follow best practices?

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SecuritybySnyk

Critical

Do not install without reviewing

SKILL.md
Quality
Evals
Security

Quality

Content

92%

Reviews the quality of instructions and guidance provided to agents. Good implementation is clear, handles edge cases, and produces reliable results.

A dense, highly actionable body with a clear phased workflow and concrete tool guidance. The main weakness is progressive disclosure: three of four referenced bundle files do not exist, leaving broken links and forcing detail to live inline.

Suggestions

Create the missing referenced files (DIAGNOSTIC_WORKFLOW.md, REPORT_TEMPLATE.md, CHECKLIST.md) or remove the broken references from the Reference Files section.

Move the per-phase code examples and algorithms into DIAGNOSTIC_WORKFLOW.md so SKILL.md stays a true overview, then verify each referenced path resolves to a real file.

Consider placing the Tool Parameter Corrections and Fallback Chains tables into the workflow reference file to further trim SKILL.md once the references exist.

DimensionReasoningScore

Conciseness

Lean and information-dense with no concept padding — compact tables for parameter corrections, evidence tiers, and fallback chains; every token earns its place and Claude's competence is assumed.

3 / 3

Actionability

Fully concrete guidance with exact tool calls and parameters (e.g. `Orphanet_search_diseases(operation="search_diseases", query=keyword)`, `FAVOR_annotate_variant("chr-pos-ref-alt")`) plus a WRONG/CORRECT parameter table and numeric scoring rules.

3 / 3

Workflow Clarity

Clear 8-phase sequence (Phase 0–7) with key phase details, explicit fallback chains for error recovery, and evidence-grading tiers acting as validation checkpoints.

3 / 3

Progressive Disclosure

References are one-level-deep and clearly signaled with descriptions, but the actual bundle structure breaks this: DIAGNOSTIC_WORKFLOW.md, REPORT_TEMPLATE.md, and CHECKLIST.md are missing (only scripts/clinical_patterns.py exists), so detail that should be offloaded remains inline.

2 / 3

Total

11

/

12

Passed

Description

100%

Based on the skill's description, can an agent find and select it at the right time? Clear, specific descriptions lead to better discovery.

A strong, third-person description that states concrete capabilities and explicit trigger guidance. It avoids fluff and is clearly distinguishable from other skills.

DimensionReasoningScore

Specificity

Lists multiple concrete actions — "HPO term matching to candidate diseases (Orphanet, OMIM), gene panel prioritization, ACMG variant interpretation, and structure-based variant analysis" — matching the anchor for multiple specific concrete actions.

3 / 3

Completeness

Clearly answers both what (the four concrete diagnostic actions) and when, with an explicit "Use for..." trigger clause listing three triggering scenarios.

3 / 3

Trigger Term Quality

Natural trigger terms a target user would say appear in the use clause — "diagnostic odyssey assistance, phenotype-to-disease ranking, and genetic-counseling differential generation" — alongside domain terms like "rare disease" and "differential diagnosis".

3 / 3

Distinctiveness Conflict Risk

Occupies a clear niche (rare disease differential diagnosis) with distinct triggers unlikely to fire for unrelated skills.

3 / 3

Total

12

/

12

Passed

Validation

93%

Checks the skill against the spec for correct structure and formatting. All validation checks must pass before discovery and implementation can be scored.

Validation15 / 16 Passed

Validation for skill structure

CriteriaDescriptionResult

relative_links

Relative link issues: 3 missing

Warning

Total

15

/

16

Passed

Repository
mims-harvard/ToolUniverse
Reviewed

Table of Contents

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