Term Name: | nephrotic syndrome type 2 |
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Synonyms: | steroid-resistant autosomal recessive nephrotic syndrome |
Definition: | A familial nephrotic syndrome characterized by steroid resistance and childhood onset of proteinuria, hypoalbuminemia, hyperlipidemia, and edema that has_material_basis_in homozygous or compound heterozygous mutation in the NPHS2 gene encoding podocin on chromosome 1q25-q31. |
Ontology: | Human Disease [DOID:0080379] ( DOID:0080379 ) |