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Entry Name Description Category Pathway Gene
H00979 Sacral defect with anterior meningocele
Caudal regression syndrome
Sacral defect with anterior meningocele (SDAM), also known as caudal regression syndrome, is a rare malformation that represents a spectrum of caudal anomalies. Clinical findings include varying degrees ... Congenital malformation VANGL1 [HSA:81839] [KO:K04510]
H02563 Neural tube defects Neural tube defects (NTDs) represent a common group of severe congenital malformations that result from failure of neural tube closure during early development. Their etiology is quite complex involving ... Congenital malformation VANGL1 [HSA:81839] [KO:K04510]
VANGL2 [HSA:57216] [KO:K04510]
TBXT [HSA:6862] [KO:K10172]
CCL2 [HSA:6347] [KO:K14624]
FUZ [HSA:80199] [KO:K22861]
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