| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C0017919 | Glycogen Storage Disease | group | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | Disease or Syndrome | genetic disease; disease of metabolism | 7 | 8 | |
| C0017921 | Glycogen storage disease type II | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | Disease or Syndrome | genetic disease; disease of metabolism | 1 | 165 |