Acromesomelic dysplasia
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| ACROMESOMELIC DYSPLASIA | DDX41 | Unknown | — | GenCC | |
| ACROMESOMELIC DYSPLASIA 1, MAROTEAUX TYPE | NPR2 | Causal | Disgenet | ||
| ACROMESOMELIC DYSPLASIA 2A | BMPR1B | Unknown | GWAS catalog | ||
| GDF5 | Unknown | HPO | |||
| ACROMESOMELIC DYSPLASIA 2B | BMPR1B | Causal | GWAS catalog | ||
| GDF5 | Causal | GWAS catalog | |||
| ACROMESOMELIC DYSPLASIA 2C, HUNTER-THOMPSON TYPE | GDF5 | Unknown | GenCC | ||
| ACROMESOMELIC DYSPLASIA 3 | BMPR1B | Causal | GWAS catalog | ||
| ACROMESOMELIC DYSPLASIA 4 | PRKG2 | Causal | CTD | ||
| ACROMICRIC DYSPLASIA | FBN1 | Causal | — | GenCC | |
| LTBP3 | Unknown | Disgenet |