| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes |
|---|---|---|---|---|---|---|---|
| C0268225 | Aspartylglucosaminuria | phenotype | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | Disease or Syndrome | genetic disease; disease of metabolism | Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system | 1 |