Source: CURATED
CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
---|---|---|---|---|---|---|---|---|
C1856058 | HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY | disease | Disease or Syndrome | genetic disease; disease of metabolism | 1 | 75 |