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Metadata
ID	DOID:0080379
Name	nephrotic syndrome type 2
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. https://www.ncbi.nlm.nih.gov/pubmed/10742096, https://www.ncbi.nlm.nih.gov/pubmed/8606597
Xrefs	OMIM:600995
Synonyms	steroid-resistant autosomal recessive nephrotic syndrome [EXACT]
Parent Relationships	is_a familial nephrotic syndrome is_a autosomal recessive disease