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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02245 | Ehlers-Danlos syndrome kyphoscoliosis type | ... and skin fragility. It is caused by a deficiency of collagen lysyl hydroxylase due to mutations in PLOD1. Recently, it has been reported that mutations in FKBP14 cause an Ehlers-Danlos syndrome with progressive ... | Congenital malformation |
(EDSKSCL1) PLOD1 [HSA:5351] [KO:K00473] (EDSKSCL2) FKBP14 [HSA:55033] [KO:K09577] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |