| 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 | |
| C3275406 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE | disease | Disease or Syndrome | genetic disease; disease of mental health | 1 | 6 |