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Entry | Name | Description | Category | Pathway | Gene |
---|---|---|---|---|---|
H02375 | Cardiac valvular dysplasia | Cardiac valvular dysplasia (CVDP) is non-syndromic severe congenital valve malformation. The identification of loss-of-function mutations in the PLD1 gene in two unrelated families with CVDP has been reported | Congenital malformation |
(CVDP1) PLD1 [HSA:5337] [KO:K01115] (CVDP2) ADAMTS19 [HSA:171019] [KO:K08633] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |