| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C0086795 | Pfaundler-Hurler Syndrome | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases | Disease or Syndrome | genetic disease; disease of metabolism | Abnormality of the skeletal system | 5 | 85 |