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Entry Name Description Category Pathway Gene
H00600 Mullerian agenesis
Mayer Rokitansky Kuster Hauser syndrome
... karyotype. It has been reported that Mullerian aplasia and hyperandrogenism is caused by mutations in the WNT4 gene. WNT4, a secreted protein that suppresses male sexual differentiation, is thought to repress ... Reproductive system disease hsa04310 Wnt signaling pathway WNT4 [HSA:54361] [KO:K00408]
H02317 SERKAL syndrome ... syndrome that consists of female to male sex reversal and renal, adrenal, and lung dysgenesis and is associated with additional developmental defects. It is caused by loss-of-function mutations in WNT4. Reproductive system disease hsa04310 Wnt signaling pathway WNT4 [HSA:54361] [KO:K00408]
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