Source: ALL
CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
---|---|---|---|---|---|---|---|---|
C0432321 | Epidermolysis bullosa, pretibial | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | Congenital Abnormality | Abnormality of the integument | 3 | 10 |