Rare Diseases

Conditions affecting a small percentage of the population, often genetic and challenging to diagnose.

Explore a rich repository of disease-specific key variables such as biomarkers, diagnostic procedures, therapies, and curated data for advancing medical research.

Biomarkers

Beta-hydroxybutyrate

GYS2

G6Pase Gene Mutation

SLC37A4

AGL

GBE1

PYGL