nephrotic syndrome type 1

Term ID

DOID:0080390

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
• MIM:256300
• NCI:C122795
• ORDO:839
• SNOMEDCT_US_2023_03_01:197601003
• UMLS_CUI:C0403399

Ontology

Human Disease   ( DOID:0080390 )