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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00474 | Schneckenbecken dysplasia | ... have limbs with extremely short long bones and flat vertebratal bodies. Loss-of-function mutations in SLC35D1 gene impair the transporter activity of nucleotide sugars in Schneckenbecken dysplasia. The disease ... | Congenital malformation | SLC35D1 [HSA:23169] [KO:K15281] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |