OBO ID: DOID:0080390
Term Name: nephrotic syndrome type 1 Search Ontology:
Synonyms:
  • Finnish congenital nephrosis
Definition: A familial nephrotic syndrome characterized by prenatal onset of massive proteinuria followed by steroid resistant renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the NPHS1 gene on chromosome 19q13. (2)
References:
  • GARD:1500
  • MEDDRA:10060740
  • NCI:C122795
  • OMIM:256300
  • ORDO:839
  • SNOMEDCT_US_2022_03_01:197601003
  • UMLS_CUI:C0403399
Ontology: Human Disease   (DOID:0080390)
OTHER nephrotic syndrome type 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NPHS1 Nephrotic syndrome, type 1 256300
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None