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nephronophthisis 19
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any nephronophthisis in which the cause of the disease is a mutation in the DCDC2 gene.
Uniprot Description A form of nephronophthisis, an autosomal recessive disorder characterized by chronic tubulointerstitial nephritis resulting in end-stage renal disease. NPHP19 patients also manifest hepatosplenomegaly, hepatic fibrosis, destruction of the bile ducts, focal bile ductal proliferation, ductal plate malformation, and cholestasis.
Disease Ontology Description A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the DCDC2 gene on chromosome 6p22.
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:0111126
OMIM:616217
UMLS:C4015542
MONDO:0014537
High level summary of knowledge for a disease, including descriptions and datasource references.