Tooluniverse Rare Disease Diagnosis

Q: What is a Claude Code skill and how does the Tooluniverse Rare Disease Diagnosis skill fit in?

A Claude Code skill is a SKILL.md file that lives under ~/.claude/skills/<name>/ and tells the Claude Code CLI agent how to perform a specific task (instructions, prompts, allowed tools). Skills are auto-discovered at session start. Tooluniverse Rare Disease Diagnosis is one of 67,000+ skills indexed in the open ClaudSkills catalog, classified under the Engineering category. Learn more at https://claudskills.com/learn/what-is-skill-md/.

Category: Engineering · Sub-category: testing · Last updated: 2026-06-02

type:debug

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.

From the source SKILL.md

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

What this skill does

Tooluniverse Rare Disease Diagnosis is a community-contributed Claude Code skill in the testing sub-category. It ships as a SKILL.md file that Claude Code auto-discovers under ~/.claude/skills/tooluniverse-rare-disease-diagnosis/ and loads when your prompt matches the skill's trigger.

When to invoke it: Use when clinician asks about rare disease diagnosis, unexplained phenotypes, or genetic testing interpretation.

Who uses this skill

The Tooluniverse Rare Disease Diagnosis Claude Code skill is built for software engineers, backend developers, full-stack teams, and technical leads building and maintaining production systems. It's part of ClaudSkills (also referred to as Claude Skills or Claude Code Skills) — the open community-curated registry of 94,000+ SKILL.md files for Anthropic's Claude Code agent and the wider Claude ecosystem (Claude API, Claude Agent SDK).

How to install

Free

Manual install (2 steps)

mkdir -p ~/.claude/skills/tooluniverse-rare-disease-diagnosis
curl -L https://claudskills.com/skills/tooluniverse-rare-disease-diagnosis/SKILL.md \
  -o ~/.claude/skills/tooluniverse-rare-disease-diagnosis/SKILL.md

Or just download SKILL.md directly and drop it into ~/.claude/skills/tooluniverse-rare-disease-diagnosis/. Claude Code auto-discovers it on next session.

Skills live at ~/.claude/skills/tooluniverse-rare-disease-diagnosis/SKILL.md on macOS/Linux, or %USERPROFILE%\.claude\skills\tooluniverse-rare-disease-diagnosis\SKILL.md on Windows. See the full install guide for step-by-step instructions.

📱 Install from your phone or desktop Telegram

Open @claudskills_bot on Telegram, tap Open Desktop App, and the desktop app installs this skill for you. Or share the bot link with a colleague — they get the same one-tap install. Learn more →

Pro

One-click install via the desktop app

The ClaudSkills desktop app installs any skill directly into ~/.claude/skills/ with one click — no terminal required. Pro starts at $9/mo or $149 lifetime.

Pro

For the full experience including quality scoring and one-click install features for each skill — upgrade to Pro.

See pricing → Download desktop app

Frequently asked questions

How do I install the Tooluniverse Rare Disease Diagnosis Claude Code skill?

Install via the ClaudSkills desktop app (one click) or copy SKILL.md from the source repository to ~/.claude/skills/tooluniverse-rare-disease-diagnosis/SKILL.md and restart Claude Code. Both flows are detailed at claudskills.com/install/.

What does the Tooluniverse Rare Disease Diagnosis skill do?

Is this skill free to install?

Yes. ClaudSkills is an open registry — every skill keeps its source repository's license, and manual install via copy is free. ClaudSkills Pro ($9/mo, $79/yr, or $149 one-time) adds one-click install via the desktop app and a multi-signal Quality Score.

When should I use the Tooluniverse Rare Disease Diagnosis skill?

Use Tooluniverse Rare Disease Diagnosis when your Claude Code task falls under the Engineering category — specifically in the testing area. Claude Code auto-discovers installed skills and invokes the right one based on the task description, so you can also ask Claude directly (e.g. "use Tooluniverse Rare Disease Diagnosis" or describe the task and let Claude pick). Browse related skills at /category/engineering/.

What is a Claude Code skill and how does the Tooluniverse Rare Disease Diagnosis skill fit in?

A Claude Code skill is a SKILL.md file that lives under ~/.claude/skills/<name>/ and tells the Claude Code CLI agent how to perform a specific task (instructions, prompts, allowed tools). Skills are auto-discovered at session start. Tooluniverse Rare Disease Diagnosis is one of 67,000+ skills indexed in the open ClaudSkills catalog, classified under the Engineering category. Learn more at /learn/what-is-a-claude-skill/.

Attribution & license

Source: https://github.com/bg-szy/TOP-SKILLS/blob/HEAD/skills/awesome-skills/tooluniverse-rare-disease-diagnosis/SKILL.md
Author: bg-szy
Website: https://bg-szy.github.io/TOP-SKILLS/

Cite this skill

If you reference this skill in a blog post, paper, or documentation, you can cite it as:

APA

bg-szy. (2026). Tooluniverse Rare Disease Diagnosis [Claude Code skill]. ClaudSkills. https://claudskills.com/skills/tooluniverse-rare-disease-diagnosis/

BibTeX

@misc{tooluniverse-rare-disease-diagnosis-2026,
  author    = {bg-szy},
  title     = {Tooluniverse Rare Disease Diagnosis [Claude Code skill]},
  year      = {2026},
  publisher = {ClaudSkills},
  url       = {https://claudskills.com/skills/tooluniverse-rare-disease-diagnosis/}
}

Embed this skill

Promote, attribute, or link this skill from your own README, blog post, or documentation. All three snippets are free to use — no sign-up, no API key. More distribution surfaces →

Badge

[![ClaudSkills](https://claudskills.com/badge/tooluniverse-rare-disease-diagnosis.svg)](https://claudskills.com/skills/tooluniverse-rare-disease-diagnosis/?utm_source=badge&utm_medium=readme&utm_campaign=skill_badge)

More Engineering skills

Browse all Engineering skills in the ClaudSkills registry, or explore these other picks from the same category:

Browse all Engineering skills → Top 100 skills

Part of ClaudSkills — the open registry for Claude Skills & Claude Code Skills. · What's New · Install guide · About · llms.txt

Part of Acreator Store — Adam Lankamer's AI tools: PerfectStudio · Ucaption · UTagger · AutoXPoster · TestYourSkills · AutomationFlows · Au Naturel · Telegram @acreatorstore