OBO ID: DOID:0080379
Term Name: nephrotic syndrome type 2 Search Ontology:
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)
OTHER nephrotic syndrome type 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NPHS2 Nephrotic syndrome, type 2 600995
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None