Popliteal pterygium syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Autosomal dominant popliteal pterygium syndrome | 1300 | IRF6 | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| Popliteal pterygium syndrome | C0265259 | IRF6 | Causal Pathogenic evidence from ClinVar | 12219090, 14640121, 15472655, 16160700, 18617879, 19036739, 19282774, 19449419, 20803643, 21045959, 22488974, 23154523, 23394314, 25548624, 25784454, 27834299 | ClinVar |