CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
---|---|---|---|---|---|---|---|---|
C0376532 | Epilepsy, Rolandic | disease | Nervous System Diseases | Disease or Syndrome | disease of anatomical entity | 31 | 75 | |
C0751778 | Myoclonic Epilepsies, Progressive | disease | Nervous System Diseases | Disease or Syndrome | genetic disease; disease of anatomical entity | Abnormality of the nervous system | 4 | 9 |
C0751783 | Lafora Disease | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | Disease or Syndrome | genetic disease; disease of anatomical entity | 2 | 12 |