| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C1842036 | GIANT PIGMENTED HAIRY NEVUS | disease | Neoplasms; Skin and Connective Tissue Diseases | Neoplastic Process | disease of anatomical entity | Abnormality of the integument | 1 | 3 |
| C0544862 | Neurocutaneous melanosis | phenotype | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nervous System Diseases | Pathologic Function | 1 | 2 |