| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C0001080 | Achondroplasia | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | Congenital Abnormality | genetic disease; disease of anatomical entity | 46 | 21 | |
| C0343055 | Generalized pustular psoriasis | disease | Skin and Connective Tissue Diseases | Disease or Syndrome | disease of anatomical entity | 43 | 17 |