Search Result |
Top |
| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02689 | Retinal dystrophy with leukodystrophy | ... defect in peroxisomal very long-chain fatty acid metabolism. It has been reported that mutations in ACBD5 cause this disease. ACBD5 encodes a peroxisomal membrane protein with a cytosolic acyl-CoA binding ... | Inherited metabolic disorder | ACBD5 [HSA:91452] [KO:K27288] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |