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