| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C0017922 | Glycogen Storage Disease Type III | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | Disease or Syndrome | genetic disease; disease of metabolism | 8 | 125 |