nephrotic syndrome type 2

Term ID

DOID:0080379

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. (2)

References

MIM:600995

Ontology

Human Disease ( DOID:0080379 )

Relationships

is a type of: autosomal recessive disease familial nephrotic syndrome

autosomal recessive disease familial nephrotic syndrome Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models