| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C0019569 | Hirschsprung Disease | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | Disease or Syndrome | disease of anatomical entity | Abnormality of the digestive system; Abnormality of the nervous system | 9 | 22 |
| C3888239 | HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 | disease | Finding | 7 | 26 |