| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C0221355 | Macrocephaly | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | Congenital Abnormality | Abnormality of the nervous system | 367 | 10 | |
| C2720434 | Macroencephaly | disease | Congenital Abnormality | 22 | 3 |