| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C0027672 | Neoplastic Syndromes, Hereditary | group | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | Neoplastic Process | 67 | 6385 | ||
| C3554226 | Congenital pontocerebellar hypoplasia type 7 | disease | Nervous System Diseases | Disease or Syndrome | disease of anatomical entity | 1 | 1 |