Hereditary c1 esterase inhibitor deficiency
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Hereditary C1 esterase inhibitor deficiency - deficient factor | C0398775 | SERPING1 | Causal Pathogenic evidence from ClinVar | 24456027 | ClinVar |
| Hereditary C1 esterase inhibitor deficiency - dysfunctional factor | C0398776 | SERPING1 | Causal Pathogenic evidence from ClinVar | 24456027 | ClinVar |