| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C2132198 | Abnormal blistering of the skin | phenotype | Finding | Abnormality of the integument | 75 | 10 | ||
| C0079474 | Hallopeau-Siemens Disease | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | Disease or Syndrome | genetic disease; disease of anatomical entity | 51 | 54 |