Metadata | |
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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 | |
Synonyms |
nephrotic syndrome type 5, with or without ocular abnormalities [EXACT] |
Parent Relationships |