Source: CLINVAR
CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
---|---|---|---|---|---|---|---|---|
C4748826 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27 | disease | Disease or Syndrome | 1 | 2 |
CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
---|---|---|---|---|---|---|---|---|
C4748826 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27 | disease | Disease or Syndrome | 1 | 2 |