| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes |
|---|---|---|---|---|---|---|---|
| C0152427 | Polydactyly | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | Congenital Abnormality | physical disorder | Abnormality of limbs; Abnormality of the skeletal system | 112 |
| C2610861 | 2-succinyl-5-enolpyruvyl-6-hydroxy-3-cyclohexene-1-carboxylic-acid synthase activity | phenotype | Molecular Function | 1 | |||
| C0282102 | Chondrodysplasia punctata, X-linked dominant type | disease | Musculoskeletal Diseases | Disease or Syndrome | genetic disease; syndrome | 1 | |
| C4085243 | MEND SYNDROME | disease | Disease or Syndrome | 1 |