Source: BEFREE
CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
---|---|---|---|---|---|---|---|---|
C2752042 | Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Cardiovascular Diseases | Disease or Syndrome | syndrome | 1 | 0 |