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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] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |