FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term nephrotic syndrome type 2 ID (Ontology) DOID:0080379 (Human Disease)
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.
Also Known As "steroid-resistant autosomal recessive nephrotic syndrome"
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
    Results list data from multiple species. Click on a button above and use the 'Filter by species' options on the resulting HitList to retrieve species-specific data.
Records annotated with this exact term (annotations to child terms are NOT included)
Data Class Field Records
Human Disease Models (FBhh)  DOID       1
show Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
 Full annotation statements 
Relevant FlyBase reports
 Genes Human Disease Models
 nephrotic syndrome type 2       5      1
 for disease ribbon | nephrotic syndrome type 2       5       --
 model of | nephrotic syndrome type 2       5       --
Spanning Tree (Parents/Children)
Only view relationship: 
monogenic disease
 |__familial nephrotic syndrome__
autosomal genetic disease        |
 |__autosomal recessive disease__|
nephrotic syndrome               |
 |__familial nephrotic syndrome__|
                                 nephrotic syndrome type 2  6 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a autosomal recessive disease
familial nephrotic syndrome
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "steroid-resistant autosomal recessive nephrotic syndrome" EXACT
Secondary IDs
hide External Crossreferences & Linkouts
MIM:600995