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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00075 |
Refsum disease Heredopathia atactica polyneuritiformis |
... level in tissues and body fluids is the hallmark of RD. Mutant forms of phytanoyl-CoA 2-hydroxylase (PHYH) which plays a key role of phytanic acid alpha-oxidation in peroxisomes have been shown to be responsible ... | Inherited metabolic disorder, Peroxisomal disease |
PHYH [HSA:5264] [KO:K00477] PEX7 [HSA:5191] [KO:K13341] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |