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nephronophthisis 14
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any nephronophthisis in which the cause of the disease is a mutation in the ZNF423 gene.
Uniprot Description An autosomal recessive disorder manifesting as infantile-onset kidney disease, cerebellar vermis hypoplasia, and situs inversus. Nephronophthisis 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.
Disease Ontology Description A nephronophthisis that has_material_basis_in homozygous mutation in the ZNF423 gene on chromosome 16q12.1.
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.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0111122
OMIM:614844
UMLS:C3539071
MONDO:0013916
High level summary of knowledge for a disease, including descriptions and datasource references.