Rare disease differential diagnosis from patient phenotype — HPO term matching to candidate diseases (Orphanet, OMIM), gene panel prioritization, ACMG variant interpretation, and structure-based variant analysis. Use for diagnostic odyssey assistance, phenotype-to-disease ranking, and genetic-counseling differential generation.
This skill does not declare a tool allowlist. The agent host applies whatever default tools are available at runtime.
SKILL.md / Manifest
https://raw.githubusercontent.com/mims-harvard/tooluniverse/main/plugin/skills/tooluniverse-rare-disease-diagnosis/SKILL.mdRegistry
github (via claudemarketplaces.com)