Calvarial doughnut lesions with bone fragility
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| CALVARIAL DOUGHNUT LESIONS WITH BONE FRAGILITY | SGMS2 | Unknown | — | HPO | |
| CALVARIAL DOUGHNUT LESIONS WITH BONE FRAGILITY AND SPONDYLOMETAPHYSEAL DYSPLASIA | SGMS2 | Causal | — | Disgenet | |
| CALVARIAL DOUGHNUT LESIONS-BONE FRAGILITY SYNDROME | SGMS2 | Causal | CTD ClinVar |