| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C0346153 | Breast Cancer, Familial | disease | Neoplasms; Skin and Connective Tissue Diseases | Neoplastic Process | disease of anatomical entity; disease of cellular proliferation | 183 | 91 | |
| C0151908 | Dry skin | phenotype | Skin and Connective Tissue Diseases | Sign or Symptom | Abnormality of the integument | 159 | 12 | |
| C0677776 | Hereditary Breast and Ovarian Cancer Syndrome | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases | Neoplastic Process | genetic disease; syndrome | 74 | 2117 | |
| C1167791 | Skin toxicity | disease | Disease or Syndrome | 62 | 24 |