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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00762 |
Spondyloepiphyseal dysplasia with congenital joint dislocations Spondyloepiphyseal dysplasia, Omani type |
... dislocations are common. Thoracic kyphoscoliosis develops in late childhood. Affected individuals are homozygous for a missense mutation of CHST3 encoding the enzyme chondroitin 6-O-sulfotransferase-1 (C6ST-1). | Congenital malformation | CHST3 [HSA:9469] [KO:K01020] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |