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urofacial syndrome 2

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any Ochoa syndrome in which the cause of the disease is a mutation in the LRIG2 gene.
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:0014049:  urofacial syndrome 2
UMLS:C3554520: