tooluniverse-rare-disease-genomics

Rare disease genomics research -- disease identification via Orphanet, causative gene discovery, gene-disease validity assessment via GenCC, pathogenic variant lookup via ClinVar, HPO phenotype mapping, epidemiology and prevalence data, clinical trial search, and literature review. Use when users ask about rare diseases, orphan diseases, genetic causes of rare conditions, Orphanet codes, HPO phenotypes, gene-disease validity, rare disease prevalence, or treatment options for rare genetic disorders.