Source: ALL
| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C1720862 | Congenital Generalized Lipodystrophy Type 1 | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases | Disease or Syndrome | genetic disease; disease of anatomical entity | 6 | 25 |