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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]
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