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Metadata
ID DOID:0080390
Name nephrotic syndrome type 1
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.
https://www.ncbi.nlm.nih.gov/pubmed/10577936, https://www.ncbi.nlm.nih.gov/pubmed/9660941
Xrefs

GARD:1500

MEDDRA:10060740

MESH:C535761

OMIM:256300

ORDO:839

UMLS_CUI:C0403399

Synonyms

Finnish congenital nephrosis [EXACT]

Parent Relationships

is_a familial nephrotic syndrome

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