Source: BEFREE
CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
---|---|---|---|---|---|---|---|---|
C0008626 | Congenital chromosomal disease | group | Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Congenital Abnormality | 756 | 47 |