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Entry Name Description Category Pathway Gene
H02324 Sacral agenesis with vertebral anomalies Sacral agenesis with vertebral anomalies is a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal. It has been reported that mutations ... Congenital malformation TBXT [HSA:6862] [KO:K10172]
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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