| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C0008928 | Cleidocranial Dysplasia | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | Disease or Syndrome | genetic disease; disease of anatomical entity; physical disorder | 52 | 22 | |
| C0751951 | Central Core Myopathy (disorder) | disease | Musculoskeletal Diseases; Nervous System Diseases | Disease or Syndrome | genetic disease; disease of anatomical entity | 44 | 110 |