| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C0026827 | Muscle hypotonia | phenotype | Pathological Conditions, Signs and Symptoms; Nervous System Diseases | Finding | Abnormality of the musculature | 336 | 579 | |
| C4748195 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 | disease | Disease or Syndrome | 1 | 5 |