| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C0543888 | Epileptic encephalopathy | disease | Nervous System Diseases | Disease or Syndrome | Abnormality of the nervous system | 30 | 94 | |
| C4310712 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 | disease | Disease or Syndrome | disease of anatomical entity | 1 | 8 |