| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes |
|---|---|---|---|---|---|---|---|
| C1847759 | MUSCULAR DYSTROPHY, CONGENITAL, 1C | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | Disease or Syndrome | genetic disease; disease of anatomical entity | 1 |