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Metadata
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

MIM:619201

Synonyms

NPHS23 [EXACT]

Parent Relationships

is_a familial nephrotic syndrome

is_a autosomal recessive disease

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