| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C0002986 | Fabry Disease | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases | Disease or Syndrome | genetic disease; disease of metabolism | Abnormality of the integument; Abnormality of the cardiovascular system | 104 | 41 |