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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02675 | Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features | ... hypomyelination, and dysmorphic features (IKSHD) is a rare neurological disorder caused by mutations in ELOVL1. ELOVL1 catalyzes fatty acid elongation to produce very long-chain fatty acids, most of which ... | Congenital malformation | ELOVL1 [HSA:64834] [KO:K10247] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |