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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

MIM:600995
Synonyms

steroid-resistant autosomal recessive nephrotic syndrome [EXACT]
Parent Relationships

is_a familial nephrotic syndrome

is_a autosomal recessive disease
Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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