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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02713 | Inflammatory poikiloderma with hair abnormalities and acral keratoses | ... acral keratoses (IPHAK) is a novel autosomal recessive dermatological condition caused by mutations in LTV1. LTV1 encodes one of the ribosome biogenesis factors that promote the assembly of the small ribosomal ... | Congenital malformation | LTV1 [HSA:84946] [KO:K14798] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |