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Entry Name Description Category Pathway Gene
H02129 Prune belly syndrome
Triad syndrome
Eagle-Barret syndrome
Abdominal musculature deficiency syndrome
... intra-abdominal testes. A homozygous loss-of-function mutation of muscarinic acetylcholine receptor M3 (CHRM3) has been described from patients with a PBS-like syndrome. CHRM3 encodes the major receptor mediating ... Congenital malformation CHRM3 [HSA:1131] [KO:K04131]
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