nephrotic syndrome type 5

Term ID

DOID:0080380

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. https://www.ncbi.nlm.nih.gov/pubmed/16912710

References

• OMIM:614199

Ontology

Human Disease   ( DOID:0080380 )