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.
Install
npx skills add mims-harvard/ToolUniverse --skill tooluniverse-rare-disease-diagnosisnpx skills add mims-harvard/ToolUniverse --skill tooluniverse-rare-disease-diagnosis -a claude-code -gnpx skills add mims-harvard/ToolUniverse --skill tooluniverse-rare-disease-diagnosis -a codex -ggemini skills install https://github.com/mims-harvard/ToolUniverse.git --path skills/tooluniverse-rare-disease-diagnosisgh skill install mims-harvard/ToolUniverse tooluniverse-rare-disease-diagnosisgit clone --depth 1 https://github.com/mims-harvard/ToolUniverse /tmp/mims-harvard__ToolUniverse
mkdir -p ~/.claude/skills ~/.agents/skills
cp -R /tmp/mims-harvard__ToolUniverse/skills/tooluniverse-rare-disease-diagnosis ~/.claude/skills/tooluniverse-rare-disease-diagnosis # Claude Code
cp -R /tmp/mims-harvard__ToolUniverse/skills/tooluniverse-rare-disease-diagnosis ~/.agents/skills/tooluniverse-rare-disease-diagnosis # Codex, Cursor, Gemini CLI, Copilot, OpenCode