Disease Term Disease ID Gene Symbol References
PERRAULT SYNDROME 1 C4551721 HSD17B4 25967389, 22864515, 9915948, 9482850, 10748062, 10400999, 16385454, 20673864, 27290639, 26970254, 23181892, 25882080
PERRAULT SYNDROME 3 C3808414 CLPP 23541340, 23851121, 25956234, 26970254, 28604674, 27899912, 27087618, 8543061, 27650058
PERRAULT SYNDROME 4 C3809105 LARS2 23541342, 9408748, 26657938, 27604308
PERRAULT SYNDROME 2 C3554105 HARS2 21464306, 27650058, 28263850, 31449985
PERRAULT SYNDROME 6 C4479656 ERAL1 28449065
PERRAULT SYNDROME 5 C4015307 TWNK 19513767, 25355836
Perrault syndrome 2855 ERAL1
HSD17B4
TWNK
HARS2
CLPP
LARS2