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Summary Literature (0)
DOID:0080390 - nephrotic syndrome type 1

Disease Ontology Definition:A familial nephrotic syndrome characterized by prenatal onset of massive proteinuria followed by steroid resistant renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the NPHS1 gene on chromosome 19q13.

Synonyms: Finnish congenital nephrosis,

Xenbase Genes : nphs1

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), familial nephrotic syndrome (is_a)