tooluniverse-rare-disease-diagnosis

What problem does it solve?

This Skill streamlines rare disease diagnosis by translating patient phenotypes into standardized HPO terms, integrating genetic data, and generating structured differential diagnoses.

Core Features & Use Cases

• Phenotype to disease mapping: Converts patient features to HPO terms and matches them to Orphanet/OMIM diseases.
• Gene panel prioritization: Identifies high-priority genes for testing based on ClinGen, haploinsufficiency, and tissue expression.
• Variant interpretation workflow: Provides a framework to interpret VUS with population data, pathogenicity predictions, and literature context.
• Use Case: A child with developmental delay and epilepsy receives a ranked differential with recommended genetic tests and a plan for follow-up.

Quick Start

Enter patient phenotype and optional genetic data to generate a prioritized differential and testing plan. The tool will convert symptoms to HPO terms, match diseases from Orphanet and OMIM, and propose a gene panel and variant interpretation workflow.