Mucolipidoses |
C0026697 |
NEU1
|
11702224, 14695530, 27604308 |
MCOLN1
|
19815695, 10973263, 23555759, 21613607, 16645217, 11845410, 20864526 |
GNPTAB
|
24798265, 23773965, 16465621, 19634183, 23227064, 21549105, 19617216 |
GNPTG
|
|
Type I Mucolipidosis |
C0268226 |
CYP21A2
|
16712870, 24808020, 10767332 |
NEU1
|
14517945, 27604308, 16712870, 24808020, 10767332, 14695530 |
MCOLN1
|
20864526, 21613607 |
Type II Mucolipidosis |
C0020725 |
MCOLN1
|
21613607, 20864526 |
GNPTAB
|
15305357, 16630736, 27604308, 18425436 |
Mucolipidosis Type IV |
C0238286, 578 |
MCOLN1
|
22268962, 10973263, 14749347, 24357685, 11030752, 27604308, 17239335, 21256127, 12182165, 21763169, 21613607, 16645217, 20864526, 19815695, 28112729, 17384215, 11013137, 16287144, 15523648, 29449188, 21224396, 11317355, 16978393, 26597493, 25525159, 25119295, 15178326, 18794901, 18326692, 11845410 |
Mucolipidosis III Alpha Beta, Atypical |
C2673375 |
GNPTAB
|
18425436 |
MUCOLIPIDOSIS II ALPHA/BETA (disorder) |
C2673377 |
GNPTAB
|
24045841, 19938078, 24798265, 23227064, 19634183, 22495880, 24550498, 15305357, 24891900, 19617216, 16465621, 25788519, 20886637, 23733939, 20880125, 23773965, 25505245, 25525159, 24060719, 27604308, 24375680, 21228398, 16200072, 27710913, 19197337, 21416587, 18190596, 25107912, 16630736, 25473036, 28095893, 27662472, 28396763, 16116615, 25606425, 19659762, 28918368, 27180337, 16835905, 23566849, 23192343 |
GNPTG
|
|
Mucolipidosis 2 |
C2931894 |
GNPTAB
|
18425436 |
Mucolipidosis III Gamma |
C1854896 |
GNPTG
|
23430803, 10712439, 24316125, 15060128, 20034096, 26935170, 27896079, 27243974, 26108976, 19370764, 19708128, 27604308, 25182519, 27038293, 15532026, 19659762 |
Mucolipidosis type II |
576 |
GNPTAB
|
|
Mucolipidosis type III alpha/beta |
423461 |
GNPTAB
|
|
Mucolipidosis type III gamma |
423470 |
GNPTG
|
|