Version: 8.0.0
Date: Tue Jan 28 2025
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nephrotic syndrome type 5
DOID:0080380
Summary
Associated Genes
Associated Alleles
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Disease
nephrotic syndrome type 5
Definition
A familial nephrotic syndrome characterized by prenatal or neonatal onset of progressive renal failure with proteinurea and edema that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB2 gene on chromosome 3p.
[1]
Synonyms
nephrotic syndrome type 5, with or without ocular abnormalities
Cross References
MIM:614199
Parent Terms
autosomal recessive disease
familial nephrotic syndrome
Child Terms
None
Sources of Associations
RGD
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ZFIN
FB
WB
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