Rare Disease Skills Index

Rare Disease Skills Index is a skill for Claude Code, Codex from aristoteleo/PantheonOS. It costs 43 tokens per session (451 once invoked), scanned A, original, BSD-2-Clause.

A set of workflows for supporting rare-disease case research. It standardizes disease and symptom names using medical reference systems, then provides a format for clinical genetics consultation reports.

In plain words
What is it for?
Use it to normalize disease or phenotype terms, resolve cross-references between medical databases, and prepare structured genetics consult reports.
Why use it?
It reduces confusion caused by aliases and mismatched medical identifiers, while keeping the final report structure consistent.

Skill for Claude CodeCodex

Written for no agent in particular: nothing here depends on one.

Good fit Use it to normalize disease or phenotype terms, resolve cross-references between medical databases, and prepare structured genetics consult reports.

Compare 6 skills from other repositories ↓
Install with agentmods
npx agentmods add skills/aristoteleo/pantheonos/rare_disease
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 aristoteleo/PantheonOS --skill rare_disease
Clone the repo
git clone --depth 1 https://github.com/aristoteleo/PantheonOS

Made for: Claude Code, Codex.

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 Rare Disease Skills Index

README.md
[![agentmods](https://agentmods.dev/badge/skills/aristoteleo/pantheonos/rare_disease/github.svg)](https://agentmods.dev/skills/aristoteleo/pantheonos/rare_disease)
Your own site
<a href="https://agentmods.dev/skills/aristoteleo/pantheonos/rare_disease"><img src="https://agentmods.dev/badge/skills/aristoteleo/pantheonos/rare_disease/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 Rare Disease Skills Index

Your own site · 80×15
<a href="https://agentmods.dev/skills/aristoteleo/pantheonos/rare_disease"><img src="https://agentmods.dev/badge/skills/aristoteleo/pantheonos/rare_disease.svg" alt="Reviewed on agentmods" width="80" height="20"></a>
Per session 43 Skills are progressive disclosure: only the name and description are preloaded; the body loads when the skill is used.
When invoked 451 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
  • 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 $0.00043 $0.00451
Opus 5 $0.00022 $0.00226
Sonnet 5 $0.00009 $0.00090
Haiku 4.5 $0.00004 $0.00045

Measured 13d ago against content hash 62d607b09d57, method: parsed. Prices are Anthropic first-party input rates as of 2026-09-12, from the pricing page.

Security

Grade A, and why

Rare Disease Skills Index 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 13d ago.

The scan reads SKILL.md. This mod also ships 2 executable files (scripts/build_rd_ontology.py, scripts/query_rd_ontology.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.

pantheon/factory/templates/skills/rare_disease/SKILL.md · 55 lines

What it actually says

Agent Skills for Rare Disease Case Support

Curated playbooks for the rare disease MDT workflow. Each agent loads the skill file that matches its current task — do not inline these contracts into prompts.

Ontology-First Workflow

Deterministic normalization against the local Orphanet/OMIM/HPO layer before any online evidence retrieval. Disease alias normalization, phenotype alignment, xref resolution, and the SQLite query scripts live here.

Skill file: rd_ontology_first.md

When to use:

  • Normalizing free-text phenotype or disease aliases (researcher, ontology mode)
  • Resolving ORPHA/OMIM/MONDO/HPO cross-IDs before retrieval (researcher, ontology mode)
  • Any candidate-name standardization step

Clinical Report Format

The authoritative format contract for the final clinical genetics consult report: cover page, 4-level numbering, 9 sections, sign-off block, machine-readable JSON, and the standalone HTML theme (embedded CSS, weasyprint PDF path).

Skill file: clinical_report_format.md

When to use:

  • Producing the final report (leader, after audit)
  • Any time a deliverable must follow the signed-report structure and theme

IMPORTANT: This file is the single source of truth for report layout and styling. The leader must follow it exactly rather than improvising structure or CSS.


Guardrails (apply across all rare disease skills)

  • Ontology normalization comes before retrieval, never after.
  • Do not fabricate xref IDs, PMIDs, DOIs, or database annotations.
  • Do not present online evidence as ontology truth.
  • The report is decision-support, never a definitive diagnosis.
Files

What ships with it

4 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. 13d ago First seen · 55 lines · 43 tokens per session scan A 62d607b09d57

Subscribe to this mod's changes

Rare Disease Skills Index is a skill published in the GitHub repository aristoteleo/PantheonOS (485 stars, last pushed today), licensed BSD-2-Clause. It adds 43 tokens to every session and 451 once invoked, about $0.0002 per session on Opus 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 2026-08-30.

Related

Other skills, from other repositories

sn-search-academic

An academic research tool for finding papers and encyclopedia entries, reading papers in full or by section, and tracing references and citations. It supports structured literature research.

OpenSenseNova/SenseNova-Skills · 31 tokens

imaging-data-commons

Query and download public cancer imaging data from NCI Imaging Data Commons using idc-index. Use for accessing large-scale radiology (CT, MR, PET) and pathology datasets for AI training or research. No authentication required. Query by metadata, visualize in browser, check licenses.

synthetic-sciences/openscience · 62 tokens

clinical-decision-support

Generate professional clinical decision support (CDS) documents for pharmaceutical and clinical research settings, including patient cohort analyses (biomarker-stratified with outcomes) and treatment recommendation reports (evidence-based guidelines with decision algorithms). Supports GRADE evidence grading…

synthetic-sciences/openscience · 97 tokens

molecular-cloning

Molecular cloning simulation and design. PCR amplicon prediction, restriction enzyme digestion, Golden Gate and Gibson assembly simulation, primer design, CRISPR sgRNA design, and plasmid annotation. For protein-level sequence analysis use biopython or esm; for database lookups use gene-database or ensembl-database.

synthetic-sciences/openscience · 70 tokens

geo-database

Access NCBI GEO for gene expression/genomics data. Search/download microarray and RNA-seq datasets (GSE, GSM, GPL), retrieve SOFT/Matrix files, for transcriptomics and expression analysis.

synthetic-sciences/openscience · 47 tokens

paper-revision-author

Revise independently drafted paper sections into one coherent LaTeX body before the abstract is written.

opensquilla/opensquilla · 24 tokens