Source: CLINVAR
| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C1858672 | GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1 | disease | Pathological Conditions, Signs and Symptoms; Nervous System Diseases | Disease or Syndrome | disease of anatomical entity | 1 | 4 |