Term Name: | nephrotic syndrome type 1 |
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Synonyms: | Finnish congenital nephrosis |
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. |
Ontology: | Human Disease [DOID:0080390] ( DOID:0080390 ) |