| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C1848137 | EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) | disease | Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | Disease or Syndrome | disease of anatomical entity | 1 | 12 |