| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C2678065 | Myofibrillar Myopathy | disease | Musculoskeletal Diseases; Nervous System Diseases | Disease or Syndrome | disease of anatomical entity | Abnormality of the musculature | 61 | 24 |
| C1832370 | MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases | Disease or Syndrome | genetic disease; disease of anatomical entity | 20 | 48 |