| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C0000772 | Multiple congenital anomalies | group | Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Congenital Abnormality | 237 | 350 | ||
| C1838979 | MITOCHONDRIAL COMPLEX I DEFICIENCY | disease | Nutritional and Metabolic Diseases | Disease or Syndrome | genetic disease; disease of metabolism | 15 | 30 | |
| C4748806 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 | disease | Disease or Syndrome | 1 | 2 |