biotender-max/tooluniverse-rare-disease-diagnosis
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.
npx skills add https://github.com/BioTender-max/awesome-bio-agent-skills --skill tooluniverse-rare-disease-diagnosisTake biotender-max/tooluniverse-rare-disease-diagnosis from the repository into ~/.claude/skills for personal
use, or into .claude/skills inside a project.
The agent identifies a skill by the name field in its header. Two skills with the
same name cannot sit side by side — one of them will be ignored.