Source: ALL
| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C0268371 | Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | Congenital Abnormality | genetic disease; disease of anatomical entity | 1 | 10 |