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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02468 | Early childhood-onset progressive leukodystrophy | ... rare autosomal recessive disorder caused by deficiency of the alkaline ceramidase. Mutations in the ACER3 gene result in inactivation of ACER3, leading to the accumulation of various sphingolipids in blood ... | Inherited metabolic disorder | ACER3 [HSA:55331] [KO:K04711] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |