Cardiacvalvular ehlers-danlos syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Cardiac-valvular Ehlers-Danlos syndrome | 230851 | COL1A2 | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| Ehlers-Danlos syndrome cardiac valvular type | C4303789 | COL1A2 | Causal Pathogenic evidence from ClinVar | 16816023 | ClinVar |
| Ehlers-Danlos syndrome, cardiac valvular form | C1857034 | COL1A2 | Causal Pathogenic evidence from ClinVar | 15077201, 16816023, 21593863 | ClinVar |