Desbuquois dysplasia
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| DESBUQUOIS DYSPLASIA 1 | C4012146 | CANT1 | Causal Pathogenic evidence from ClinVar | 19853239, 20425819, 21037275, 21412251, 21654728, 22539336, 27881841 | ClinVar |
| DESBUQUOIS DYSPLASIA 2 | C4014294 | XYLT1 | Causal Pathogenic evidence from ClinVar | 23982343, 24581741, 28462984, 30554721 | ClinVar |