CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
---|---|---|---|---|---|---|---|---|
C0432072 | Dysmorphic features | disease | Congenital Abnormality | 335 | 611 | |||
C0000772 | Multiple congenital anomalies | group | Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Congenital Abnormality | 237 | 350 | ||
C4225392 | COENZYME Q10 DEFICIENCY, PRIMARY, 7 | disease | Disease or Syndrome | genetic disease; disease of metabolism | 1 | 14 |