| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C0242383 | Age related macular degeneration | disease | Eye Diseases | Disease or Syndrome | genetic disease; disease of anatomical entity | 38 | 279 | |
| C2239219 | von Willebrand's factor (lab test) | phenotype | Laboratory Procedure | 32 | 367 |