Mandibuloacral dysplasia
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| MANDIBULOACRAL DYSPLASIA | MTX2 | Unknown | GWAS catalog | ||
| MANDIBULOACRAL DYSPLASIA ASSOCIATED TO MTX2 | MTX2 | Unknown | Orphanet | ||
| MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME | MTX2 | Causal | ClinGen ClinVar Disgenet HPO | ||
| MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY | LMNA | Causal | CTD ClinVar Disgenet GWAS catalog HPO Orphanet | ||
| MMP9 | Unknown | CTD Disgenet | |||
| MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY | ZMPSTE24 | Causal | CTD ClinGen ClinVar Disgenet GWAS catalog HPO Orphanet |