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Entry | Name | Description | Category | Pathway | Gene |
---|---|---|---|---|---|
H00753 | Urofacial syndrome | The urofacial syndrome (UFS) is an autosomal recessive disorder characterized by the combination of urological problems and distorted facial expression. Failure of the urinary bladder to void in patients ... | Congenital malformation |
(UFS1) HPSE2 [HSA:60495] [KO:K07965] (UFS2) LRIG2 [HSA:9860] [KO:K24609] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |