Loading...
Loading...
Found 2 Skills
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.
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.