Multiple pterygium syndrome
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE | C1854678 | CHRNA1 | 24121633, 7619526, 30177536, 6287911, 18252226, 27748205, 9158151 |
| CHRND | 18252226, 16916845 | ||
| CHRNG | 16826531, 16826520, 27843868 | ||
| NEB | 28336317 | ||
| RAPSN | |||
| RYR1 | 26932181 | ||
| Multiple pterygium syndrome | C0265261 | CHRNG | 27843868, 22167768, 16826520, 16826531 |
| MYH3 | 29805041 | ||
| RYR1 | 26932181 | ||
| TPM2 | 23413262 | ||
| Multiple Pterygium Syndrome, Autosomal Dominant | C1867440 | MYH3 | 29314551, 27381093, 25957469, 26578207 |
| Autosomal recessive multiple pterygium syndrome | 2990 | CHRNG | |
| MYH3 | |||
| Autosomal dominant multiple pterygium syndrome | 65743 | MYH3 |