Spondylo-megaepiphyseal-metaphyseal dysplasia
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Spondylo-megaepiphyseal-metaphyseal dysplasia | 228387 | NKX3-2 | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia | C2750066 | NKX3-2 | Causal Pathogenic evidence from ClinVar | 9426254, 20004766, 29704686 | ClinVar |