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nephronophthisis 4
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any nephronophthisis in which the cause of the disease is a mutation in the NPHP4 gene.
Uniprot Description An autosomal recessive inherited disease resulting in end-stage renal disease at age ranging between 6 and 35 years. It is a progressive tubulo-interstitial kidney disorder characterized by polydipsia, polyuria, anemia and growth retardation. The most prominent histological features are 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:0111115
MESH:C564640
OMIM:606966
SCTID:446989009
UMLS:C1847013
UMLS:C2959367
MONDO:0011752
High level summary of knowledge for a disease, including descriptions and datasource references.