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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.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:615112
UMLS:C3554520
MONDO:0014049
High level summary of knowledge for a disease, including descriptions and datasource references.