Metadata | |
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ID | DOID:0112266 |
Name | nephrotic syndrome type 23 |
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. https://pubmed.ncbi.nlm.nih.gov/31472902/ |
Xrefs | |
Synonyms |
NPHS23 [EXACT] |
Parent Relationships |