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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02246 | Ehlers-Danlos syndrome musculocontractural type | ... abnormalities, congenital contractures, and developmental anomalies. EDSMC is caused by mutations in CHST14, encoding dermatan 4-O-sulfotransferase-1 (D4ST1). Recently, mutations in DSE, encoding dermatan ... | Congenital malformation |
(EDSMC1) CHST14 [HSA:113189] [KO:K08105] (EDSMC2) DSE [HSA:29940] [KO:K01794] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |