3-hydroxy-3-methylglutaryl-coa synthase deficiency
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency | C2751532 | HMGCS2 | 12647205, 11479731, 11228257, 25511235, 27604308, 23751782, 9337379, 12072887, 21502324, 7851882, 20346956 |
| 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | 35701 | HMGCS2 |