tooluniverse-rare-disease-diagnosis

tooluniverse-rare-disease-diagnosis is a skill for Claude Code from mims-harvard/ToolUniverse. It costs 72 tokens per session (2,210 once invoked), scanned A, original, Apache-2.0.

A research assistant for rare-disease diagnosis from patient features such as symptoms and clinical findings. It matches those features to diseases, genes, and variants using resources including HPO, Orphanet, OMIM, and ClinVar.

In plain words
What is it for?
Use it to organise symptoms into standard Human Phenotype Ontology terms, compare candidate diseases, prioritise gene panels, interpret variants, and examine possible structural effects.
Why use it?
It helps narrow a long diagnostic search into a ranked set of possible diseases and genes. It also brings together evidence from several databases instead of relying on one result.

Skill for Claude Code

Written for Claude Code: disable-model-invocation in frontmatter.

Part of the tooluniverse plugin — 162 skills, 8 commands, 1 agent, 1 hook, 1 MCP server shipped together

Good fit Use it to organise symptoms into standard Human Phenotype Ontology terms, compare candidate diseases, prioritise gene panels, interpret variants, and examine possible structural effects.

Compare 6 skills from other repositories ↓
Install with agentmods
npx agentmods add skills/mims-harvard/tooluniverse/tooluniverse-rare-disease-diagnosis
About the project

ToolUniverse is a collection of tools, interfaces, and supporting components for building AI systems that perform scientific work. It is for developers creating AI scientist agents that use APIs, databases, machine-learning tools, and domain-specific utilities. The catalogue includes skills, commands, an MCP server, an agent, and a hook for working with the ecosystem.

mims-harvard/ToolUniverse · 1,744 stars · on GitHub · aiscientist.tools

Install

Getting it into your agent

One page per mod, every tool's command on it. A separate URL per tool would split the same page into five that compete with each other.

Any agent
npx skills add mims-harvard/ToolUniverse --skill tooluniverse-rare-disease-diagnosis
Clone the repo
git clone --depth 1 https://github.com/mims-harvard/ToolUniverse

Made for: Claude Code.

Or install tooluniverse, the plugin that ships this one along with the rest of its 162 skills, 8 commands, 1 agent, 1 hook, 1 MCP server.

Wrote this? Show the measurements

A badge with what this costs and how it scanned, read live from this page, so it follows the numbers instead of freezing them. Markdown for a README, HTML for a documentation site or a project page.

agentmods badge for tooluniverse-rare-disease-diagnosis

README.md
[![agentmods](https://agentmods.dev/badge/skills/mims-harvard/tooluniverse/tooluniverse-rare-disease-diagnosis/github.svg)](https://agentmods.dev/skills/mims-harvard/tooluniverse/tooluniverse-rare-disease-diagnosis)
Your own site
<a href="https://agentmods.dev/skills/mims-harvard/tooluniverse/tooluniverse-rare-disease-diagnosis"><img src="https://agentmods.dev/badge/skills/mims-harvard/tooluniverse/tooluniverse-rare-disease-diagnosis/github.svg" alt="Measured on agentmods" height="20"></a>

Or the 80×15 button, for a site that already has a row of RSS and ATOM ones. Only the verdict fits; the numbers stay here.

agentmods 80×15 button for tooluniverse-rare-disease-diagnosis

Your own site · 80×15
<a href="https://agentmods.dev/skills/mims-harvard/tooluniverse/tooluniverse-rare-disease-diagnosis"><img src="https://agentmods.dev/badge/skills/mims-harvard/tooluniverse/tooluniverse-rare-disease-diagnosis.svg" alt="Reviewed on agentmods" width="80" height="20"></a>
Per session 72 Skills are progressive disclosure: only the name and description are preloaded; the body loads when the skill is used.
When invoked 2,210 The whole file, excluding the scripts and references it only reads on demand.
Security scan A 0 findings. A grade says what 26 rules found in the file — not that it is safe. Third-party audits
  • Socket pass 29 Mar 2026
  • Snyk warn 29 Mar 2026
  • NVIDIA SkillSpector pass 7 Sept 2026
How audits are shown
Origin original No closer match found in the catalogue.
Token cost

What it costs to keep this loaded

Counted locally with the o200k_base tokenizer, which is exact for GPT models; Claude uses its own tokenizer and its counts differ. Treat this as one consistent yardstick across the catalogue rather than a bill. Prices are per million input tokens.

ModelPer sessionOnce invoked
Fable 5.1 $0.00072 $0.02210
Opus 5.5 $0.00029 $0.00884
Sonnet 5.5 $0.00014 $0.00442
Haiku 4.5 $0.00007 $0.00221

Measured 10d ago against content hash eef1c9e36434, method: parsed. Prices are Anthropic first-party input rates as of 2026-10-07, from the pricing page.

Security

Grade A, and why

tooluniverse-rare-disease-diagnosis scanned grade A with 0 findings against 26 rules in 11 categories — prompt injection, anti-refusal, data exfiltration, privilege escalation, supply chain, agent snooping, system-prompt leakage, SSRF and excessive agency — measured 10d ago.

The scan reads SKILL.md. This mod also ships 1 executable file (scripts/clinical_patterns.py), listed below but not scanned — reading those needs a real analyzer, not pattern matching.

A static scan of the body, not an audit. Every finding is printed with the line that produced it so you can judge whether it matters here. A mod is markdown that instructs an agent; that is exactly why what it instructs is worth reading.

Nothing flagged

None of the 26 patterns this scan looks for appear in this file: no shell pipes, no recursive deletes, no credential paths, no hidden text, no instruction-override or anti-refusal phrasing, no agent-config snooping. That is not a guarantee, it is the absence of the things that are checkable.

plugin/skills/tooluniverse-rare-disease-diagnosis/SKILL.md · 116 lines

How it starts

The opening of the file, as written. The whole thing — 116 lines — stays where its author put it; the contents beside it link to each section on GitHub.

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.


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:

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

Read the full file on GitHub · 116 lines

Files

What ships with it

6 files beside SKILL.md in the same directory: the scripts, references and assets a skill reads on demand. Not counted in the per-session cost; read them before you install if any of them is executable.

Changes

What this file has done since we first saw it

Hashed on every crawl. A supply-chain change to an agent config is a question of when, not whether, so the history is kept rather than the latest state alone.

  1. 10d ago Changed · +7 lines eef1c9e36434
  2. 1mo ago First seen · 109 lines · 72 tokens per session scan A 0231e5e6f054

Subscribe to this mod's changes

tooluniverse-rare-disease-diagnosis is a skill published in the GitHub repository mims-harvard/ToolUniverse (1,744 stars, last pushed yesterday), licensed Apache-2.0. It adds 72 tokens to every session and 2,210 once invoked, about $0.0003 per session on Opus 5.5. A static security scan graded it A with 0 findings. No closer match exists in the catalogue, so it is treated as the original; first seen 2026-09-03.

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