Individual skill

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.

skills/tooluniverse-rare-disease-diagnosis/SKILL.md

Source commit b1f9b6e3306f8d870e23b2023057bf730090036f

What was checked

Matches the observed repository HEAD

Yes

Scanner rules are current

Yes

Repository scan complete

No

Skill scan complete

No

Observed behavior

Network or broad shell

Last checked

Nov 9, 2026

These are observations at the recorded commit, not a guarantee of safety. Review the source before running it.

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