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urofacial syndrome type 1

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description A rare autosomal recessive disorder characterized by facial grimacing when attempting to smile and failure of the urinary bladder to void completely despite a lack of anatomical bladder outflow obstruction or overt neurological damage. Affected individuals often have reflux of infected urine from the bladder to the upper renal tract, with a risk of kidney damage and renal failure.
Mondo Term and Equivalent IDs
MONDO:0009368:  urofacial syndrome type 1