Term Name: | nephrotic syndrome type 5 |
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Synonyms: | nephrotic syndrome type 5, with or without ocular abnormalities |
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. |
Ontology: | Human Disease [DOID:0080380] ( DOID:0080380 ) |