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Senior-Loken syndrome 8
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any Senior-Loken syndrome in which the cause of the disease is a mutation in the WDR19 gene.
Uniprot Description A renal-retinal disorder characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life.
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:616307
UMLS:C4225376
MONDO:0014579
High level summary of knowledge for a disease, including descriptions and datasource references.