Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0080379 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models