Pyruvate dehydrogenase complex deficiency disease
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Pyruvate Dehydrogenase Complex Deficiency Disease | C0034345 | DLAT | 20022530, 16049940 |
| PDHA1 | 10679936, 20002461, 15384102, 2378353, 21914562 | ||
| PDHB | 15138885 | ||
| LONP1 | 30304514 | ||
| Juvenile Pyruvate Dehydrogenase Complex Deficiency Disease | C0751595 | PDHA1 | 2378353 |
| PDHB | 15138885 | ||
| Pyruvate Dehydrogenase Complex Deficiency Disease, Neonatal | C0751596 | PDHA1 | 2378353 |
| PDHB | 15138885 | ||
| Pyruvate dehydrogenase E3 deficiency | 2394 | DLD |