Pelizaeus-merzbacher disease

Disease Term Disease ID Gene Symbol References
Pelizaeus-Merzbacher Disease C0205711 LMNB1
PLP1 7531827, 9934976, 1715570, 3466187, 2773936, 29486744, 1384324, 8909455, 9633722, 1708672, 18571143, 1723945, 7541731, 7539213, 14452137, 8037216, 23771846, 7679906, 24357685, 7684886, 10425042, 1707231, 9788732, 2479017, 11786921, 9482656, 9008538, 9143933, 9747038, 11093273, 25655951, 7573159, 9894878, 26633545, 15712223, 28101371, 7683951, 2480601, 1376966, 10417279, 12910435, 24519770, 23347225
AIMP1
POLR3A
Adult Pelizaeus-Merzbacher Disease C0751914 LMNB1
PLP1 18571143
Classic Pelizaeus-Merzbacher Disease C0751916 LMNB1
PLP1 18571143
Pelizaeus-Merzbacher-like disease due to AIMP1 mutation 280293 AIMP1
Pelizaeus-Merzbacher-like disease due to HSPD1 mutation 280288 HSPD1
Pelizaeus-Merzbacher disease, connatal form 280210 PLP1
Pelizaeus-Merzbacher disease, classic form 280219 PLP1
Pelizaeus-Merzbacher-like disease due to GJC2 mutation 280282 GJC2
Pelizaeus-Merzbacher disease, transitional form 280224 PLP1
Pelizaeus-Merzbacher disease in female carriers 280229 PLP1