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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01497 | Temtamy preaxial brachydactyly syndrome | ... brachydactyly syndrome (TPBS) is an autosomal recessive rare disorder that is caused by the mutations in the CHSY1 gene. CHSY1 encodes chondroitin synthase 1 involving in the biosynthesis of chondroitin sulfate ... | Congenital malformation | CHSY1 [HSA:22856] [KO:K13499] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |