How do I install tooluniverse-rare-disease-diagnosis?

Run `npx skills add https://github.com/mims-harvard/tooluniverse --skill tooluniverse-rare-disease-diagnosis` in your terminal. You need to have run `npx skills init` once in your project first.

Which agent frameworks does tooluniverse-rare-disease-diagnosis support?

tooluniverse-rare-disease-diagnosis works with any agent framework supported by the Skills registry, including Claude Code, Cursor, GitHub Copilot, Cline, Codex, and Gemini CLI.

Is tooluniverse-rare-disease-diagnosis free to use?

Yes. tooluniverse-rare-disease-diagnosis is free to install and use. It is available from the open explainx.ai skill registry published by mims-harvard.

Where can I read ratings and reviews for tooluniverse-rare-disease-diagnosis?

Community ratings and review text appear on this explainx.ai skill page below the description. Reviews use a 1–5 scale and may include short written feedback from signed-in members.

How do I install tooluniverse-rare-disease-diagnosis?

Run `npx skills add https://github.com/mims-harvard/tooluniverse --skill tooluniverse-rare-disease-diagnosis` in your terminal. You need to have run `npx skills init` once in your project first.

Which agent frameworks does tooluniverse-rare-disease-diagnosis support?

tooluniverse-rare-disease-diagnosis works with any agent framework supported by the Skills registry, including Claude Code, Cursor, GitHub Copilot, Cline, Codex, and Gemini CLI.

Is tooluniverse-rare-disease-diagnosis free to use?

Yes. tooluniverse-rare-disease-diagnosis is free to install and use. It is available from the open explainx.ai skill registry published by mims-harvard.

Where can I read ratings and reviews for tooluniverse-rare-disease-diagnosis?

Community ratings and review text appear on this explainx.ai skill page below the description. Reviews use a 1–5 scale and may include short written feedback from signed-in members.

How do I install tooluniverse-rare-disease-diagnosis?

Run `npx skills add https://github.com/mims-harvard/tooluniverse --skill tooluniverse-rare-disease-diagnosis` in your terminal. You need to have run `npx skills init` once in your project first.

Which agent frameworks does tooluniverse-rare-disease-diagnosis support?

tooluniverse-rare-disease-diagnosis works with any agent framework supported by the Skills registry, including Claude Code, Cursor, GitHub Copilot, Cline, Codex, and Gemini CLI.

Is tooluniverse-rare-disease-diagnosis free to use?

Yes. tooluniverse-rare-disease-diagnosis is free to install and use. It is available from the open explainx.ai skill registry published by mims-harvard.

Where can I read ratings and reviews for tooluniverse-rare-disease-diagnosis?

Community ratings and review text appear on this explainx.ai skill page below the description. Reviews use a 1–5 scale and may include short written feedback from signed-in members.

How do I install tooluniverse-rare-disease-diagnosis?

Run `npx skills add https://github.com/mims-harvard/tooluniverse --skill tooluniverse-rare-disease-diagnosis` in your terminal. You need to have run `npx skills init` once in your project first.

Which agent frameworks does tooluniverse-rare-disease-diagnosis support?

tooluniverse-rare-disease-diagnosis works with any agent framework supported by the Skills registry, including Claude Code, Cursor, GitHub Copilot, Cline, Codex, and Gemini CLI.

Is tooluniverse-rare-disease-diagnosis free to use?

Yes. tooluniverse-rare-disease-diagnosis is free to install and use. It is available from the open explainx.ai skill registry published by mims-harvard.

Where can I read ratings and reviews for tooluniverse-rare-disease-diagnosis?

Community ratings and review text appear on this explainx.ai skill page below the description. Reviews use a 1–5 scale and may include short written feedback from signed-in members.

How do I install tooluniverse-rare-disease-diagnosis?

Run `npx skills add https://github.com/mims-harvard/tooluniverse --skill tooluniverse-rare-disease-diagnosis` in your terminal. You need to have run `npx skills init` once in your project first.

Which agent frameworks does tooluniverse-rare-disease-diagnosis support?

tooluniverse-rare-disease-diagnosis works with any agent framework supported by the Skills registry, including Claude Code, Cursor, GitHub Copilot, Cline, Codex, and Gemini CLI.

Is tooluniverse-rare-disease-diagnosis free to use?

Yes. tooluniverse-rare-disease-diagnosis is free to install and use. It is available from the open explainx.ai skill registry published by mims-harvard.

Where can I read ratings and reviews for tooluniverse-rare-disease-diagnosis?

Community ratings and review text appear on this explainx.ai skill page below the description. Reviews use a 1–5 scale and may include short written feedback from signed-in members.

How do I install tooluniverse-rare-disease-diagnosis?

Run `npx skills add https://github.com/mims-harvard/tooluniverse --skill tooluniverse-rare-disease-diagnosis` in your terminal. You need to have run `npx skills init` once in your project first.

Which agent frameworks does tooluniverse-rare-disease-diagnosis support?

tooluniverse-rare-disease-diagnosis works with any agent framework supported by the Skills registry, including Claude Code, Cursor, GitHub Copilot, Cline, Codex, and Gemini CLI.

Is tooluniverse-rare-disease-diagnosis free to use?

Yes. tooluniverse-rare-disease-diagnosis is free to install and use. It is available from the open explainx.ai skill registry published by mims-harvard.

Where can I read ratings and reviews for tooluniverse-rare-disease-diagnosis?

Community ratings and review text appear on this explainx.ai skill page below the description. Reviews use a 1–5 scale and may include short written feedback from signed-in members.

How do I install tooluniverse-rare-disease-diagnosis?

Run `npx skills add https://github.com/mims-harvard/tooluniverse --skill tooluniverse-rare-disease-diagnosis` in your terminal. You need to have run `npx skills init` once in your project first.

Which agent frameworks does tooluniverse-rare-disease-diagnosis support?

tooluniverse-rare-disease-diagnosis works with any agent framework supported by the Skills registry, including Claude Code, Cursor, GitHub Copilot, Cline, Codex, and Gemini CLI.

Is tooluniverse-rare-disease-diagnosis free to use?

Yes. tooluniverse-rare-disease-diagnosis is free to install and use. It is available from the open explainx.ai skill registry published by mims-harvard.

Where can I read ratings and reviews for tooluniverse-rare-disease-diagnosis?

Community ratings and review text appear on this explainx.ai skill page below the description. Reviews use a 1–5 scale and may include short written feedback from signed-in members.

How do I install tooluniverse-rare-disease-diagnosis?

Run `npx skills add https://github.com/mims-harvard/tooluniverse --skill tooluniverse-rare-disease-diagnosis` in your terminal. You need to have run `npx skills init` once in your project first.

Which agent frameworks does tooluniverse-rare-disease-diagnosis support?

tooluniverse-rare-disease-diagnosis works with any agent framework supported by the Skills registry, including Claude Code, Cursor, GitHub Copilot, Cline, Codex, and Gemini CLI.

Is tooluniverse-rare-disease-diagnosis free to use?

Yes. tooluniverse-rare-disease-diagnosis is free to install and use. It is available from the open explainx.ai skill registry published by mims-harvard.

Where can I read ratings and reviews for tooluniverse-rare-disease-diagnosis?

Community ratings and review text appear on this explainx.ai skill page below the description. Reviews use a 1–5 scale and may include short written feedback from signed-in members.

How do I install tooluniverse-rare-disease-diagnosis?

Run `npx skills add https://github.com/mims-harvard/tooluniverse --skill tooluniverse-rare-disease-diagnosis` in your terminal. You need to have run `npx skills init` once in your project first.

Which agent frameworks does tooluniverse-rare-disease-diagnosis support?

tooluniverse-rare-disease-diagnosis works with any agent framework supported by the Skills registry, including Claude Code, Cursor, GitHub Copilot, Cline, Codex, and Gemini CLI.

Is tooluniverse-rare-disease-diagnosis free to use?

Yes. tooluniverse-rare-disease-diagnosis is free to install and use. It is available from the open explainx.ai skill registry published by mims-harvard.

Where can I read ratings and reviews for tooluniverse-rare-disease-diagnosis?

Community ratings and review text appear on this explainx.ai skill page below the description. Reviews use a 1–5 scale and may include short written feedback from signed-in members.

How do I install tooluniverse-rare-disease-diagnosis?

Run `npx skills add https://github.com/mims-harvard/tooluniverse --skill tooluniverse-rare-disease-diagnosis` in your terminal. You need to have run `npx skills init` once in your project first.

Which agent frameworks does tooluniverse-rare-disease-diagnosis support?

tooluniverse-rare-disease-diagnosis works with any agent framework supported by the Skills registry, including Claude Code, Cursor, GitHub Copilot, Cline, Codex, and Gemini CLI.

Is tooluniverse-rare-disease-diagnosis free to use?

Yes. tooluniverse-rare-disease-diagnosis is free to install and use. It is available from the open explainx.ai skill registry published by mims-harvard.

Where can I read ratings and reviews for tooluniverse-rare-disease-diagnosis?

Community ratings and review text appear on this explainx.ai skill page below the description. Reviews use a 1–5 scale and may include short written feedback from signed-in members.

How do I install tooluniverse-rare-disease-diagnosis?

Run `npx skills add https://github.com/mims-harvard/tooluniverse --skill tooluniverse-rare-disease-diagnosis` in your terminal. You need to have run `npx skills init` once in your project first.

Productivity

tooluniverse-rare-disease-diagnosis▌

mims-harvard/tooluniverse · updated Apr 8, 2026

MDX-style export adds YAML metadata + attribution linking explainx.ai and this canonical listing URL.

$npx skills add https://github.com/mims-harvard/tooluniverse --skill tooluniverse-rare-disease-diagnosis

0 commentsdiscussion

summary

Systematic diagnosis support for rare diseases using phenotype matching, gene panel prioritization, and variant interpretation across Orphanet, OMIM, HPO, ClinVar, and structure-based analysis.

skill.md

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:

Report-first - Create report file FIRST, update progressively
Phenotype-driven - Convert symptoms to HPO terms before searching
Multi-database triangulation - Cross-reference Orphanet, OMIM, OpenTargets
Evidence grading - Grade diagnoses by supporting evidence strength
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.

COMPUTE, DON'T DESCRIBE

When analysis requires computation (statistics, data processing, scoring, enrichment), write and run Python code via Bash. Don't describe what you would do — execute it and report actual results. Use ToolUniverse tools to retrieve data, then Python (pandas, scipy, statsmodels, matplotlib) to analyze it.

Clinical Reasoning Framework (BEFORE Tools)

Apply these strategies to form a 3-5 candidate differential, then use tools to confirm/refute:

Multi-system involvement - Symptoms spanning 2+ organ systems = strongest rare disease signal. Ask: what single pathway explains ALL features?
Regression question - Losing abilities vs never acquired? Regression = neurodegenerative/metabolic storage. Stable = developmental/structural.
Trigger question - Episodic/triggered (fasting, illness, exercise) = metabolic disorder (often treatable). Constitutive = structural/degenerative.
Rarest feature first - Build differential from most specific finding, not most prominent. Check remaining features for consistency.
Treatable-first - Move treatable conditions to top for urgent workup (enzyme replacement, dietary, chelation, vitamin-responsive).
Occupational/environmental exposure - Latency up to 50 years. Asbestos/silica/heavy metals/solvents/farming. Always ask about PAST jobs.
Autoimmune differential - Which joints? Symmetric? Extra-articular? Serologic pattern? Organ under attack?
Rare syndrome signals - Named triads, common diagnoses failing to explain ALL findings, failed standard treatment, unusual lab findings.
Tools verify, not generate - Form hypothesis first, then use databases to confirm.

Common pitfalls: Felty's (RA+splenomegaly+neutropenia) mimics infection; SLE nephritis mimics PSGN (check ASO); occupational exposures trigger autoimmunity (silica→scleroderma/RA/SLE).

Tool Parameter Corrections

Tool	WRONG	CORRECT
`OpenTargets_get_associated_drugs_by_target_ensemblID`	`ensemblID`	`ensemblId`
`ClinVar_get_variant_details`	`variant_id`	`id`
`MyGene_query_genes`	`gene`	`q`
`gnomad_get_variant`	`variant`	`variant_id`

Workflow

Phase 0: Clinical Reasoning → 3-5 candidate differential
Phase 1: Phenotype → HPO terms (HPO_search_terms), core vs variable, onset, family history
Phase 2: Disease Matching → Orphanet_search_diseases, OMIM_search, DisGeNET_search_gene
Phase 3: Gene Panel → ClinGen validation, GTEx expression, prioritization scoring
Phase 3.5: Expression Context → CELLxGENE, ChIPAtlas for tissue/cell-type confirmation
Phase 3.6: Pathway Analysis → KEGG, IntAct for convergent pathways
Phase 4: Variant Interpretation → ClinVar, gnomAD frequency, CADD/AlphaMissense/EVE/SpliceAI, ACMG criteria
Phase 5: Structure Analysis → AlphaFold2, InterPro domains (for VUS)
Phase 6: Literature → PubMed, BioRxiv/MedRxiv, OpenAlex
Phase 7: Report Synthesis → Prioritized differential with next steps

Key Phase Details

Phase 2 - Disease Matching: Orphanet_search_diseases(operation="search_diseases", query=keyword) then Orphanet_get_genes(operation="get_genes", orpha_code=code). Score overlap: Excellent >80%, Good 60-80%, Possible 40-60%.

Phase 3 - Gene Panel: ClinGen classification drives inclusion (Definitive/Strong/Moderate = include; Limited = flag; Disputed/Refuted = exclude). Scoring: Tier 1 (top disease gene +5), Tier 2 (multi-disease +3), Tier 3 (ClinGen Definitive +3), Tier 4 (tissue expression +2), Tier 5 (pLI >0.9 +1).

Phase 4 - Variants: gnomAD frequency classes: ultra-rare <0.00001, rare <0.0001, low-freq <0.01. ACMG: PVS1 (null), PS1 (same AA), PM2 (absent pop), PP3 (computational), BA1 (>5% AF). 2+ concordant predictors strengthen PP3.

Evidence Grading

Tier	Criteria
T1 (High)	Phenotype match >80% + gene match
T2 (Medium-High)	Phenotype match 60-80% OR likely pathogenic variant
T3 (Medium)	Phenotype match 40-60% OR VUS in candidate gene
T4 (Low)	Phenotype <40% OR uncertain gene

Fallback Chains

Primary	Fallback 1	Fallback 2
`get_joint_associated_diseases_by_HPO_ID_list`	`Orphanet_search_diseases`	PubMed phenotype search
`ClinVar_get_variant_details`	`gnomad_get_variant`	VEP annotation
`GTEx_get_expression_summary`	`HPA_search_genes_by_query`	Tissue-specific literature

Reference Files

DIAGNOSTIC_WORKFLOW.md - Code examples and algorithms per phase
REPORT_TEMPLATE.md - Report template and examples
CHECKLIST.md - Interactive completeness checklist
scripts/clinical_patterns.py - Clinical pattern lookup (syndromes, differentials, red flags, occupational exposures)

how to use tooluniverse-rare-disease-diagnosis

How to use tooluniverse-rare-disease-diagnosis on Cursor

AI-first code editor with Composer

Prerequisites

Before installing skills in Cursor, ensure your development environment meets these requirements:

›Cursor installed and configured on your development machine
›Node.js version 16.0+ with npm package manager (verify with node --version)
›Active project directory or workspace where you want to add tooluniverse-rare-disease-diagnosis

Execute installation command

Execute the skills CLI command in your project's root directory to begin installation:

$npx skills add https://github.com/mims-harvard/tooluniverse --skill tooluniverse-rare-disease-diagnosis

The skills CLI fetches tooluniverse-rare-disease-diagnosis from GitHub repository mims-harvard/tooluniverse and configures it for Cursor.

Select Cursor when prompted

The CLI will show a list of available agents. Use arrow keys to navigate and space to select Cursor:

◆ Which agents do you want to install to?

│

│ ── Universal (.agents/skills) ── always included ────

│ • Amp

│ • Antigravity

│ • Cline

│ • Codex

│ ●Cursor(selected)

│ • Cursor

│ • Windsurf

Verify installation

Confirm successful installation by checking the skill directory location:

.cursor/skills/tooluniverse-rare-disease-diagnosis

Reload or restart Cursor to activate tooluniverse-rare-disease-diagnosis. Access the skill through slash commands (e.g., /tooluniverse-rare-disease-diagnosis) or your agent's skill management interface.

⚠

Security & Verification Notice

We perform automated surface-level scans (Gen AI Scanner, Socket, Snyk) during installation. These checks detect common vulnerabilities but do not guarantee complete security. Always review skill source code and verify the publisher's reputation before production use.

Skills execute code in your development environment. Always verify the publisher's identity, review recent commits, and test in isolated environments before production deployment.

Additional Resources

›View source code on GitHub ›Skills CLI documentation ›Learn more about Cursor ›What are agent skills?

List & Monetize Your Skill

Submit your Claude Code skill and start earning

GET_STARTED →

Use Cases▌

User Story & Requirements Generation

Create detailed user stories, acceptance criteria, and feature specs

Example

Generate user stories for 'password reset feature' with acceptance criteria, edge cases, and test scenarios

✓

Reduce spec writing time by 50%, ensure comprehensive coverage

Competitive Analysis

Research competitors, compare features, identify gaps

Example

Analyze 5 competitor products, create feature comparison matrix, suggest differentiation opportunities

✓

Complete competitive research in 2 hours instead of 2 days

Roadmap Prioritization

Evaluate features using frameworks (RICE, ICE, Kano) and create prioritized backlogs

Example

Score 20 feature ideas using RICE framework, generate prioritized roadmap with rationale

✓

Make data-driven prioritization decisions faster

Stakeholder Communication

Draft PRDs, status updates, and stakeholder presentations

Example

Create executive summary of Q3 roadmap, monthly progress report, feature launch announcement

✓

Save 3-5 hours/week on communication overhead

Implementation Guide▌

Prerequisites

›Claude Desktop or compatible AI client
›Access to product documentation and roadmap tools (Jira, Notion, etc.)
›Understanding of product management frameworks (RICE, Jobs-to-be-Done, etc.)
›Stakeholder contact information and communication channels

Time Estimate

30-60 minutes to see productivity improvements

Installation Steps

1.Install product management skill
2.Start with user story generation for known feature
3.Progress to competitive analysis: research 2-3 competitors
4.Use for roadmap prioritization: apply RICE/ICE scoring
5.Draft stakeholder communications and refine based on feedback
6.Build template library for recurring PM tasks
7.Share effective prompts with product team

Common Pitfalls

⚠Not validating competitive research—verify facts before sharing
⚠Accepting user stories without involving engineering team
⚠Over-relying on frameworks without qualitative judgment
⚠Not customizing outputs to company culture and communication style
⚠Skipping stakeholder validation of generated requirements

Best Practices▌

✓ Do

+Validate research and competitive analysis with real data
+Collaborate with engineering when generating technical requirements
+Customize frameworks and templates to your company context
+Use skill for first drafts, refine with stakeholder input
+Document successful prompt patterns for PM tasks
+Combine AI efficiency with human judgment and intuition

✗ Don't

−Don't publish competitive analysis without fact-checking
−Don't finalize user stories without engineering review
−Don't make prioritization decisions solely on AI scoring
−Don't skip customer validation of generated requirements
−Don't ignore company-specific context and culture

💡 Pro Tips

★Provide context: company goals, constraints, customer feedback
★Ask for alternatives: 'Show 3 ways to prioritize this roadmap'
★Request stakeholder-specific formatting: 'Executive summary vs. engineering spec'
★Use skill for 70% generation + 30% customization to company needs

When to Use This▌

✓ Use When

Use for user story writing, competitive research, roadmap prioritization, stakeholder communication, and PRD drafting. Best for reducing repetitive documentation and research work.

✗ Avoid When

Avoid for strategic product vision (requires deep customer empathy), pricing decisions (needs market and financial expertise), or when face-to-face customer discovery is more valuable than speed.

Learning Path▌

1Basic: user stories, feature specs, status updates
2Intermediate: competitive analysis, prioritization frameworks, PRDs
3Advanced: product strategy, go-to-market planning, OKR setting
4Expert: product vision, market positioning, business model innovation

Discussion

Product Hunt–style comments (not star reviews)

No comments yet — start the thread.

general reviews

Ratings

4.5★★★★★45 reviews

★★★★★Charlotte Mensah· Dec 24, 2024
tooluniverse-rare-disease-diagnosis fits our agent workflows well — practical, well scoped, and easy to wire into existing repos.
★★★★★Layla Okafor· Dec 24, 2024
Useful defaults in tooluniverse-rare-disease-diagnosis — fewer surprises than typical one-off scripts, and it plays nicely with `npx skills` flows.
★★★★★Dhruvi Jain· Dec 12, 2024
We added tooluniverse-rare-disease-diagnosis from the explainx registry; install was straightforward and the SKILL.md answered most questions upfront.
★★★★★Emma Mensah· Dec 4, 2024
Registry listing for tooluniverse-rare-disease-diagnosis matched our evaluation — installs cleanly and behaves as described in the markdown.
★★★★★Aarav Chen· Dec 4, 2024
Keeps context tight: tooluniverse-rare-disease-diagnosis is the kind of skill you can hand to a new teammate without a long onboarding doc.
★★★★★Aarav Jackson· Nov 23, 2024
tooluniverse-rare-disease-diagnosis is among the better-maintained entries we tried; worth keeping pinned for repeat workflows.
★★★★★James Chawla· Nov 15, 2024
I recommend tooluniverse-rare-disease-diagnosis for anyone iterating fast on agent tooling; clear intent and a small, reviewable surface area.
★★★★★Emma Patel· Nov 11, 2024
tooluniverse-rare-disease-diagnosis fits our agent workflows well — practical, well scoped, and easy to wire into existing repos.
★★★★★Oshnikdeep· Nov 3, 2024
tooluniverse-rare-disease-diagnosis reduced setup friction for our internal harness; good balance of opinion and flexibility.
★★★★★Ganesh Mohane· Oct 22, 2024
tooluniverse-rare-disease-diagnosis is among the better-maintained entries we tried; worth keeping pinned for repeat workflows.

showing 1-10 of 45

1 / 5