Refsum disease
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Refsum Disease | C0034960, 773 | PEX7 | 12522768, 12325024 |
| PHYH | 10767344, 9326940, 18612766, 27604308, 9326939, 14974078, 12522768, 11555634, 10709665 | ||
| Refsum Disease, Phytanoyl-CoA Hydroxylase Deficiency | C1720802 | PEX7 | 12522768 |
| PHYH | 12522768 | ||
| Refsum Disease, Adult, 2 | C2749346 | PEX7 | 25800479, 10083738, 9090383, 11781871, 9090382, 9090381, 24357685, 12522768, 11756410, 22008564, 23572185, 21990100, 12325024, 27604308 |
| Refsum Disease, Adult, 1 | C2749345 | PHYH | |
| Infantile Refsum disease | 772 | PEX2 | |
| PEX1 | |||
| PEX10 | |||
| PEX12 | |||
| PEX13 | |||
| PEX14 | |||
| PEX16 | |||
| PEX19 | |||
| PEX26 | |||
| PEX3 | |||
| PEX5 | |||
| PEX6 | |||
| PEX11B |