Term Name: | nephrotic syndrome type 23 |
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Synonyms: | NPHS23 |
Definition: | A familial nephrotic syndrome characterized by onset of proteinuria in the first or second decade of life, mesangial hypercellularity, focal segmental glomerulosclerosis, and effacement of podocyte foot processes that has_material_basis_in homozygous or compound heterozygous mutation in the KIRREL1 gene on chromosome 1q23.1. |
Ontology: | Human Disease [DOID:0112266] ( DOID:0112266 ) |