About   Help   FAQ
Disease Ontology Browser
nephrotic syndrome type 2 (DOID:0080379)
Alliance: disease page
Synonyms: steroid-resistant autosomal recessive nephrotic syndrome
Alt IDs: OMIM:600995
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
MGI 6.20
The Jackson Laboratory