| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C1848526 | Pontocerebellar Hypoplasia Type 2A | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | Disease or Syndrome | disease of anatomical entity | 4 | 11 | |
| C1856974 | PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder) | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | Disease or Syndrome; Congenital Abnormality | disease of anatomical entity | 1 | 5 |