Desbuquois dysplasia
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| DESBUQUOIS DYSPLASIA | CANT1 | Unknown | Disgenet | ||
| FAM20B | Unknown | GWAS catalog | |||
| XYLT1 | Unknown | GWAS catalog | |||
| DESBUQUOIS DYSPLASIA 1 | CANT1 | Causal | CTD ClinGen ClinVar Disgenet HPO | ||
| XYLT1 | Causal | — | Disgenet | ||
| DESBUQUOIS DYSPLASIA 2 | XYLT1 | Causal | ClinVar Disgenet GWAS catalog HPO |