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nephronophthisis 7
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any nephronophthisis in which the cause of the disease is a mutation in the GLIS2 gene.
Uniprot Description An autosomal recessive disorder resulting in end-stage renal disease during childhood or adolescence. It is a progressive tubulo-interstitial kidney disorder histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts.
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.
DOID:0111116
MESH:C566930
OMIM:611498
UMLS:C1969092
MONDO:0012680
High level summary of knowledge for a disease, including descriptions and datasource references.