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Metadata
ID DOID:0080380
Name 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.
https://www.ncbi.nlm.nih.gov/pubmed/16912710
Xrefs

MIM:614199

Synonyms

nephrotic syndrome type 5, with or without ocular abnormalities [EXACT]

Parent Relationships

is_a familial nephrotic syndrome

is_a autosomal recessive disease

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