| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C1854678 | MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE | disease | Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | Disease or Syndrome | genetic disease; syndrome | 8 | 13 |