| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C4082171 | Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | Disease or Syndrome | genetic disease; disease of metabolism | 2 | 112 | |
| C3714958 | PULMONARY HYPERTENSION, NEONATAL, SUSCEPTIBILITY TO | phenotype | Finding | 1 | 3 |