| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C3553617 | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 | disease | Disease or Syndrome | 1 | 12 | |||
| C0002874 | Aplastic Anemia | disease | Hemic and Lymphatic Diseases | Disease or Syndrome | disease of anatomical entity | Abnormality of blood and blood-forming tissues | 1 | 7 |
| C3151443 | DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 | disease | Disease or Syndrome | genetic disease; disease of anatomical entity | 1 | 6 |