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nephrotic syndrome type 5
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease familial nephrotic syndrome
External Links
- Disease Ontology
- DOID:0080380
- Mondo Disease Ontology
- OMIM
Related Genes
