rare-disease-consult

Structured rare disease differential diagnosis using Claude with live HPO and PubMed lookup. A single agent works the case end-to-end with full tool access — extracting clinical features, mapping them to Human Phenotype Ontology terms, looking up candidate diseases by phenotype, and querying PubMed for similar published cases. Produces a grounded top-5 differential suitable for both patient review and sharing with a physician.