Radioulnar synostosis with amegakaryocytic thrombocytopenia
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome | 71289 | HOXA11 | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| MECOM | Causal Pathogenic evidence from ClinVar | - | ClinVar | ||
| Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia | C1854273 | HOXA11 | Causal Pathogenic evidence from ClinVar | 11101832, 24239177, 26581901 | ClinVar |
| MECOM | Causal Pathogenic evidence from ClinVar | 26581901 | ClinVar | ||
| RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1 | C4551975 | HOXA11 | Causal Pathogenic evidence from ClinVar | 11101832 | ClinVar |
| RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2 | C4225221 | MECOM | Causal Pathogenic evidence from ClinVar | 26581901, 29519864, 29540340 | ClinVar |