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feat: add rare disease ontology-first skill with bundled scripts#100

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zqbake merged 1 commit intoaristoteleo:mainfrom
hazelian0619:feature/rare-disease-v2
Apr 28, 2026
Merged

feat: add rare disease ontology-first skill with bundled scripts#100
zqbake merged 1 commit intoaristoteleo:mainfrom
hazelian0619:feature/rare-disease-v2

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Summary

Add a rare disease ontology-first skill with self-contained CLI scripts shipped inside the skill directory. Uses ~/.pantheon/rd_ontology/ as the global shared database path. No framework-level changes — agents invoke scripts via the shell toolset.

Supersedes #99.

What changed from v1

v1 (closed) v2 (this PR)
rd_ontology ToolSet registered in framework Scripts live in skills/rare_disease/scripts/
Changed pantheon/toolsets/__init__.py No framework changes
Changed pantheon/endpoint/toolsets.py No framework changes
DB at data/rd_ontology_store/ (project-local) DB at ~/.pantheon/rd_ontology/ (global, shared)
Agents use toolset API calls Agents use shell to invoke Python CLI

Files

New

  • skills/rare_disease/scripts/build_rd_ontology.py — ETL pipeline (Orphanet/OMIM/HPO → SQLite)
  • skills/rare_disease/scripts/query_rd_ontology.py — CLI: resolve, disease, find_by_hpo, hpo_term, stats

Modified

  • skills/rare_disease/rd_ontology_first.md — updated for shell-based usage, global DB path
  • agents/rare_disease/evidence_researcher.mdrd_ontologyshell toolset
  • agents/rare_disease/phenotype_structurer.mdrd_ontologyshell toolset

Unchanged from upstream

  • agents/rare_disease/leader.md, auditor.md, genotype_analyst.md, reporter.md
  • teams/rare_disease_team.md
  • All framework code

🤖 Generated with Claude Code

Comment thread pantheon/endpoint/toolsets.py Outdated
Comment thread pantheon/toolsets/__init__.py Outdated
Comment thread pantheon/toolsets/__init__.py Outdated
Comment thread pantheon/toolsets/rd_ontology.py Outdated
@zqbake
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zqbake commented Apr 28, 2026

remove framework-level changes

@hazelian0619 hazelian0619 force-pushed the feature/rare-disease-v2 branch from 430748f to bb70d68 Compare April 28, 2026 09:20
@hazelian0619
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Superseded — previous branch accidentally included framework-level changes from v1.

@hazelian0619 hazelian0619 reopened this Apr 28, 2026
@hazelian0619 hazelian0619 force-pushed the feature/rare-disease-v2 branch from bb70d68 to 77a2309 Compare April 28, 2026 09:41
Ship ontology query tools as CLI scripts inside the skill directory
rather than as a framework-level ToolSet. Agents invoke them via
the shell toolset — no changes to pantheon/toolsets or endpoint.

- Add rd_ontology_first skill with ontology-before-online workflow
- Bundle build_rd_ontology.py (ETL) and query_rd_ontology.py (CLI)
  inside skills/rare_disease/scripts/
- Use ~/.pantheon/rd_ontology/ as the global shared database path
- Include 6 agent definitions and rare_disease_team template

Co-Authored-By: Claude Opus 4.7 <noreply@anthropic.com>
@zqbake zqbake merged commit d19ee08 into aristoteleo:main Apr 28, 2026
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2 participants