CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
---|---|---|---|---|---|---|---|---|
C0751651 | Mitochondrial Diseases | group | Nutritional and Metabolic Diseases | Disease or Syndrome | genetic disease; disease of metabolism | 49 | 70 | |
C3554067 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 | disease | Disease or Syndrome | genetic disease; disease of metabolism | 1 | 6 |