Source: CLINVAR
CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
---|---|---|---|---|---|---|---|---|
C4551549 | Early Infantile Epileptic Encephalopathy 6 | disease | Nervous System Diseases | Disease or Syndrome | disease of anatomical entity | 3 | 261 |