| Hexosaminidase alpha-Subunit Deficiency (Variant B) |
C1848922 |
HEXA
|
11392526 |
| Tay-Sachs Disease |
C0039373 |
GM2A
|
26203402 |
|
HEXA
|
1825014, 14727180, 9272736, 25525159, 14566483, 7551830, 19091716, 2973464, 9851891, 12180151, 1532289, 1302612, 25606403, 20363167, 9222766, 22441121, 8490625, 18490185, 11392526, 2522679, 1301190, 1387685, 10571007, 8328462, 1831451, 22723944, 10083731, 14972652, 27682588, 25557439, 17015493, 22789865, 15714079, 2144098, 8445615, 2837213, 2848800, 12202988, 2970528, 1307230, 7837766, 2141777, 16352452, 6959123, 14577003, 1322637, 1837283, 9150157, 21967858, 8484765, 1301938, 21228398, 2140574, 26633545, 7827134, 1384323, 11161796, 20100466, 18642377, 2220809, 7951261, 8730294, 27896118, 12027830, 17237499, 20672374, 23035047, 1830584, 19858779, 1483696, 9338583, 1833974, 27033294, 24518553, 8581357, 9401008, 24357685, 9375850, 1301189, 7898712, 1827944, 16948947, 8757036, 8044648, 18358410, 3362213, 28739864, 7749419, 2961848, 7858168, 24767253, 3375249, 16698036, 27604308, 21796138, 23852624, 6236221, 1827945, 8444467, 24374108, 25287655, 27959697, 1832817, 7717398, 11463833, 24940364, 16088929, 9090529, 22344438, 21567908, 22975760, 24498621, 3837850, 22390110, 9603435, 2934978, 28503624 |
| Tay-Sachs Disease, AB Variant |
C0268275 |
GM2A
|
8900233, 27604308, 26203402, 1915858, 25529582, 8244332 |
| Tay-Sachs disease, B variant, adult form |
309192 |
HEXA
|
|
| Tay-Sachs disease, B variant, infantile form |
309178 |
HEXA
|
|
| Tay-Sachs disease, B variant, juvenile form |
309185 |
HEXA
|
|
| Tay-Sachs disease, B1 variant |
309239 |
HEXA
|
|
| Tay-Sachs Disease, Juvenile |
C1848913 |
HEXA
|
|
| TAY-SACHS DISEASE, JUVENILE/ADULT |
C4310843 |
HEXA
|
|
| Tay-Sachs Disease, Variant B1 |
C1848916 |
HEXA
|
|
