Source: CLINVAR
| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C0205710 | Alpers Syndrome (disorder) | disease | Immune System Diseases; Nervous System Diseases | Disease or Syndrome | genetic disease; disease of metabolism; disease of anatomical entity | 4 | 126 |