Omodysplasia
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Autosomal dominant omodysplasia | 93328 | FZD2 | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| Omodysplasia 2 | C2750355 | FZD2 | Causal Pathogenic evidence from ClinVar | 25759469, 29230162, 29383834, 30455931 | ClinVar |
| Autosomal recessive omodysplasia | 93329 | GPC6 | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| Omodysplasia type 1 | C1850318 | GPC6 | Causal Pathogenic evidence from ClinVar | 19481194 | ClinVar |