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

• OMIM:600995

Ontology

Human Disease   ( DOID:0080379 )