| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C0751202 | Cystathionine beta-Synthase Deficiency Disease | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases | Disease or Syndrome | genetic disease; disease of metabolism | 2 | 76 | |
| C3150344 | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED | disease | Disease or Syndrome | genetic disease; disease of metabolism | 1 | 24 | ||
| C4017308 | HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE | disease | Finding | 1 | 3 |