Metachondromatosis
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Metachondromatosis | 2499, C0410530 | PTPN11 | Causal Pathogenic evidence from ClinVar | 11704759, 14644997, 14974085, 15987685, 16399795, 18253957, 19509418, 20308328, 20577567, 21340158, 21407260, 21533187, 21567923, 23726368, 24628801, 24803665, 25912702, 26785492, 27521173, 28483241, 28587547, 28650561, 28957739 | ClinVar |