| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C2930980 | Malignant hyperthermia susceptibility type 1 | disease | Pathological Conditions, Signs and Symptoms | Finding | 1 | 89 | ||
| C0751951 | Central Core Myopathy (disorder) | disease | Musculoskeletal Diseases; Nervous System Diseases | Disease or Syndrome | genetic disease; disease of anatomical entity | 1 | 54 |