Disease Term Disease ID Gene Symbol References
Leukodystrophy, Metachromatic C0023522 ARSA 9452102, 30057904, 2574462, 18786133, 9600244, 9096767, 15375602, 26890752, 11941485, 8101083, 16678723, 8101038, 16966551, 7815434, 12035837, 26131420, 12503099, 28762252, 24357685, 8982952, 11020646, 12788103, 23208745, 23581857, 15952986, 23701968, 20339381, 1684088, 25965562, 7866401, 8891236, 12809637, 9090526, 11456299, 17560502, 1353340, 7825603, 7906588, 1284530, 14517960, 15326627, 15139291, 18693274, 14680985, 8104633, 7581401, 12445909, 9819708, 15026521, 10477432, 9192271, 15710861, 23559313, 12809638, 7860068, 26462614, 26553228, 9490297, 24001781, 1670590, 21167507, 15720392, 8723680, 8962139, 21265945, 10751093, 22216298, 27374302, 1678251, 11777924, 17438611, 11061266, 7909527, 19815439, 10381328, 10220151, 24816252, 8455580, 7649558, 10533072, 10459747, 11013459, 1673291, 20646068, 28667691, 22993277, 27261095, 8095918, 16546179, 7902317, 28670130, 19606494, 1975241, 12086582, 9272717, 20890085, 19021637, 12081727
ARSB 8116615, 8723688, 16435196, 17458871, 23557332, 1550123, 21514195
Metachromatic leukodystrophy, juvenile type C0751276 ARSA
PSAP 24478108
Metachromatic Leukodystrophy, Infant C0751278 ARSA
PSAP 24478108
Metachromatic Leukodystrophy, Adult-Type (disorder) C0751279 ARSA
PSAP 24478108
Metachromatic leukodystrophy variant C4024961 ERCC2
Metachromatic leukodystrophy, adult form 309271 PSAP
ARSA
Metachromatic leukodystrophy, late infantile form 309256 PSAP
ARSA
Metachromatic leukodystrophy, juvenile form 309263 PSAP
ARSA